As a genetic code affects character and fate. Code in code: Reveal the second genetic code for reading genetic code

Section Ege: 2.6. Genetic information in the cell. Genes, genetic code and its properties. Matrix nature of biosynthesis reactions. Biosynthesis of protein and nucleic acids

There are already more than 6 billion people on Earth. If you do not count 25-30 million pairs of single-line twins, then genetically all people are different. This means that each of them is unique, has unique hereditary features, properties of character, abilities, temperament and many other qualities. What do such differences are determined between people? Of course there are differences in their Genotypes . Sets of genes of this body. Every person is unique for each person, as well as the genotype of an individual or plant is unique. But genetic signs of this person are embodied in proteins synthesized in its body. Consequently, the structure of a protein of one person is different, although quite a bit, from the protein of another person. That is why the problem of bodies transplantation arises, which is why allergic reactions to products, insect bites, plants pollen, etc. arise. This does not mean that people do not meet completely identical proteins. Proteins performing the same functions may be the same or very slightly different from one or two amino acids from each other. But there is no people on Earth (with the exception of single-time twins), in which all proteins would be the same.

Information on the primary structure of the protein is encoded as a sequence of nucleotides in the DNA gene - gene molecule. Gene - This is the unit of hereditary information of the body. Each DNA molecule contains many genes. The combination of all the organism genes is it genotype.

The encoding of hereditary information occurs with genetic code . The code is similar to the famous Morse alphabet, which points and dash encodes information. Azbuka Morse is universal for all radists, and differences consist only in translating signals into different languages. The genetic code is also universal for all organisms and differs only by alternating nucleotides forming genes and coding proteins of specific organisms.

Properties of genetic code : Triplet, specificity, versatility, redundancy and impaired.

So, what is the genetic code? Initially, it consists of triples ( triplets ) DNA nucleotides combining in different sequences. For example, AAT, HCA, ACG, THC, etc. Each nucleotide triplet encodes a certain amino acid that will be built into the polypeptide chain. So, for example, the TSGT triplet encodes the amino acid alanine, and the AAG triplet is an amino acid phenylalanine. Amino acids 20, and opportunities for combinations of four nucleotides in groups of three - 64. Consequently, four nucleotides are enough to encode 20 amino acids. That is why one amino acid can be encoded by several triplets. Part of the triplets does not at all encode amino acids, but launches or stops protein biosynthesis.

Actually the genetic code is considered the sequence of nucleotides in the INK moleculeFor it removes information from DNA ( transcription process ) and translates it into the sequence of amino acids in the molecules of synthesized proteins ( translation process ). The composition of the IRNA includes Nucleotides AqSU. IRNN Nucleotide Triplets are called codons. Already given examples of DNA triplets on the IRNA will look as follows - the TsGT triplet on the IRNA will become a triplet of the HCA, and the DNA triplet - AAG will become a UUC triplet. It is the codons of IRNA that the genetic code is reflected in the record. So, the genetic code is triplet, universal for all organisms on Earth, degenerate (each amino acid is encrypted with more than one codon). Between genes there are punctuation marks - these are a triplets called stop codons . They signal the end of the synthesis of one polypeptide chain. There are tables of a genetic code that need to be used to use, to decipher the Codons of IRNK and constructing chains of protein molecules (in brackets - complementary DNA).

Leading Scientific Journal Nature. Reported the detection of the second genetic code - such a code inside the code, which was recently hacked by molecular biologists and computer programmers. Moreover, in order to identify it, they used non-evolutionary theory, but information technology.

The new code was called Splicing Code. It is inside DNA. This code controls the main genetic code is very complex, however, predictable. Splicing code manages how and when the gene assembly and regulating elements occurs. The disclosure of this code inside the code helps shed light on some long-term secrets of genetics, which surfaced to the surface after the project to decipher the complete sequence of the human genome. One of these secrets was why in such a complex organism, as a human, there are only 20,000 genes? (Scientists have expected to detect much more.) Why the genes are divided into segments (exons), which are separated by the unemploying elements (intron), and then after transcription connect together (i.e., sprumen)? And why the genes are included in some cells and tissues, and are not included in others? For two decades, molecular biologists tried to find out the genetic regulation mechanisms. This article indicates a very important point in understanding what is really happening. She does not give answers to all questions, but it demonstrates that the internal code exists. This code is a system of information transfer that can be so clearly deciphered that scientists could predict as in certain situations and with inexplicably accuracy can behave.

Imagine that in the next room you hear the orchestra. You open the door, look inside and see in the room three or four musicians playing musical instruments. This is what, according to Brendon Frey, who participated in the disclosure of the code, is like the human genome. He says: "We were able to detect only 20,000 genes, but we knew that they form a huge amount of protein products and regulatory elements. How? One method is called alternative splicing ". Various exons (parts of genes) can be collected in different ways. "For example, three neosin protein genes can create more than 3,000 genetic messages that help control the brain bond system", "says Frey. Immediately the article describes that scientists know that 95% of our genes have alternative splicing, and in most cases in different types of cells and tissues of transcripts (RNA molecules resulting from transcription) are expressed in different ways. There should be something that manages how these thousands of combinations are collected and expressed. This is the task of splice code.

Readers who want to get a runaway opening overview can read the article in Science Daily.entitled "Researchers who hacked the 'Splicing Code' reveal the secret underlying biological complexity". The article says: "Scientists from the University of Toronto received a fundamentally new idea of \u200b\u200bhow living cells use a limited number of genes to form such incredibly complex organs as the brain". The Nature magazine itself begins with the Hadesheld Ice Ice Code Code. Then followed the article of Tehlo and Valkarsela called "Genov Regulation: Hacking of the Second Genetic Code. And, finally, the decisive was the article by a group of researchers from the University of Toronto under the leadership of Benjamin D. Blenko and Brandon D. Freya, "decrypting the splicing code."

This article is the victory of information science, which reminds us of decryptors of the Second World War. Their methods included an algebra, geometry, probability theory, vector calculus, information theory, program optimization, and other advanced methods. What they did not need, so it is in evolutionary theorywhich never mentioned in scientific articles. Reading this article, you can see, under what strong tension the authors of this Overture are:

"We describe the" Splicing Code 'scheme, which uses combinations of hundreds of RNA properties in order to predict changes due to tissues in alternative splicing thousands of exons. The code establishes new classes of splicing schemes, recognizes different regulatory programs in different tissues and sets controlled control sequences controlled by mutations. We revealed widespread regulatory strategies, including: the use of unforeseen major property associations; detecting low levels of exon, which weaken properties of specific tissues; manifestation of properties in intrones deeper than previously thought; and modulation of splice levels by the structural characteristics of the transcript. The code helped to establish the exon class, the inclusion of which dries expression in the tissues of an adult body, activating the degradation of MRCA, and the exception of which contributes to expression during embryogenesis. The code facilitates the disclosure and a detailed description of the adjustable events of alternative splicing across the entire genome. "

In a team who hacked the code, specialists from the Department of Electronic and Computer Engineering, as well as from the Department of Molecular Genetics, were participated. (Fray itself works in the Unit of Microsoft Corporation, Microsoft Research) Like Decifed Time Decifers, Frey and Barash developed "A new method of biological analysis conducted using a computer that detects 'code words' charged inside the genome". With the help of a huge amount of data created by molecular geneticists, a group of researchers conducted a "reverse development" of the splicing code as long as they could not predict how he will act. As soon as the researchers coped with it, they checked this code on the mutations and saw, how exonas are inserted or removed. They found that the code can even cause tissue-specific changes or act differently depending on whether the adult is a mouse or embryo. One gene, XPO4 is associated with cancer; Researchers noted: "These data confirm the conclusion that the XPO4 expression of the gene should be strictly monitored to avoid possible destructive consequences, including oncogenesis (cancer), as it is active during embryogenesis, but its amount is reduced in adult tissues. It turns out that they were absolutely surprised by the level of control, which they saw. Intentionally or not, but as a key to the randering of the Frey, it was not random variability and selection, but a language of reasonable intention. He noted: "Understanding a complex biological system is similar to understanding the complex electronic circuit."

Hadi Ice Impowd said that the seeming simplicity of the Watson-Creek genetic code, with its four bases, triplet codons, 20 amino acids and 64 "symbols" DNA - hides under him the whole world of complexity. Enclosed within this simpler code, the splicing code is much more complicated.

But RNA is located between DNA and proteins - a separate world of complexity. RNA is a transformer that sometimes transfers genetic messages, and sometimes it controls them, while cycling many structures capable of affecting its function. In the article published in the same issue, a group of researchers under the guidance of Benjamin D. Blenkoou and Brandon D. Freya from the University of Toronto to Ontario, Canada, reports attempts to solve the second genetic code, which can be predicted as information RNA segments transcribed from a certain gene, can be mixed and combined to form a variety of products in different fabrics. This process is known as alternative splaxing. This time there is no simple table - instead of it algorithms that combine more than 200 different DNA properties with definitions of the RNA structure.

The work of these researchers indicates the rapid progress that has reached computational methods in the preparation of the RNA model. In addition to understanding alternative splicing, computer science helps scientists to predict RNA structures and set small regulatory RNA fragments that do not encode proteins. "This is a wonderful time", "says Christopher Berg, a computer biologist from the Massachusetts Institute of Technologies in Cambridge. "In the future we are waiting for a huge success".

Informatics, computer biology, algorithms and codes - these concepts were not part of the Darwinian dictionary, when he developed his theory. Mendel had a very simplified model of how signs are distributed during inheritance. In addition, the idea that signs are encoded, was presented only in 1953. We see that the initial genetic code is adjustable even more complex included in it, code. These are revolutionary ideas. In addition, there are all signs that this level of control is not the last. Ice reminds us that for example, RNA and proteins have a three-dimensional structure. The functions of molecules may change when their form changes should exist something that controls the folding, so the three-dimensional structure performs what the function requires. In addition, access to genes seems to be controlled another code, histone code. This code is encoded by molecular markers or "tails" on histone proteins that serve as centers for twisting and DNA superblings. Describing our time, iceford talks about "Constant revival in RNA computer science".

Tehor and Valkarsell agree that difficulty lies behind the simplicity. "In theory, everything looks very simple: DNA forms RNA, which then creates a protein"- they start their article. "But in reality everything is much more complicated". In the 1950s, we learned that all living organisms, from bacteria to humans, have the main genetic code. But soon we realized that complex organisms (eukaryotes) possess some unnatural and difficult to understand the property: their genomes have peculiar sites, introns that should be removed so that exons can be connected together. Why? Today the fog dissipates: "The main advantage of this mechanism is that it allows different cells to choose alternative methods of splicing of the precursor of the matrix RNA (pre-mRNA) and thus one gene forms various messages", - they explain, - "And then various mRNA can encode different proteins with different functions". From a smaller code, you get more information, provided that inside the code there is this other code that knows how to do it.

As it makes hacking the splicing code so difficult, so it is that the factors controlling the exon assembly are established by many other factors: sequences located near the exon borders, introne sequences and regulatory factors that either help or brake the splicing mechanism. In addition, "The effects of a certain sequence or factor may vary depending on its location relative to the boundaries of the Intron-exon or other regulatory motives."- explains Tehor and Valkarsell. "Therefore, the most difficult task in the prediction of tissue-specific splicing is the calculation of the algebra of an indifferent number of motives and relationships between regulatory factors that recognize them".

To resolve this problem, a group of researchers introduced a huge amount of data on RNA sequences and conditions in which they formed. "Then the computer was given a task - to determine the combination of properties that could be better explained by the experimentally installed tissue-specific exon selection". In other words, researchers conducted reverse code development. Like decryptors of the Second World War, as soon as scientists recognize the algorithm, they can make predictions: "He correctly installed alternative exons with accuracy and predicted their differential regulation between pairs of tissues." And just like any good scientific theory, the discovery gave a new understanding: "This allowed us to explain the previously established regulatory motifs in a new way and pointed to previously unknown properties of well-known regulators, as well as unexpected functional relations between them", - Researchers noted. "For example, the code implies that the inclusion of exon leading to the processed proteins is a common mechanism for managing the gene expression process during the transition from embryonic tissue into an adult body fabric".

Tehor and Valkarssel consider the publication of their articles an important first step: "Work ... It is better to consider as the opening of the first fragment of a much larger rosett stone needed to decipher alternative messages of our genome." According to these scientists, future research will undoubtedly improve their knowledge about this new code. In conclusion, they casually mention evolution, and do it in a very unusual way. They say: "This does not mean that evolution created these codes. This means that progress will require an understanding of how codes interact. Another surprise was the fact that the degree of preservation was raised today about the possible existence of "species-specific codes".

The code is likely to work in each individual cell and, therefore, it may be necessary to respond more than 200 types of cells of mammalian animals. It should also cope with a huge variety of alternative splaxing schemes, not to mention simple solutions about the inclusion or pass of a separate exon. Limited evolutionary preservation of alternative splicing control (which is estimated by about 20% between people and mice) raises the issue of the existence of species specific codes. Moreover, the relationship between DNA processing and gene transcription affects alternative splasing, and the latest data is indicated on the DNA packaging by histone proteins and covalent histone modifications (so-called epigenetic code) in splicing regulation. Therefore, the future methods will have to establish the exact interaction between the histone code and the splicing code. The same applies to still little understood effects of complex RNA structures on alternative splaxing.

Codes, codes and again codes. The fact that scientists practically do not talk about Darwinism in these articles, indicates that evolutionary theorists - adherents of old ideas and traditions, there is a lot about what to reflect after they read these articles. And here are those who relate to the biology of codes with enthusiasm. They have a wonderful opportunity to take advantage of a fascinating web application that decided the decinteers in order to stimulate further research. It can be found on the website of the University of Toronto called "Website Forecasting Alternative Splicing". Visitors will vainly look for mention of evolution here, and this despite the old axiom that nothing in biology has no sense without it. The new version of this expression 2010 may sound like this: "Nothing in biology makes sense, if not considered in the light of computer science" .

Links and Notes

We are glad that we could tell you about this story on the day of its publication. Perhaps this is one of the most significant scientific articles of the year. (Of course, it is significant to every big discovery made by other groups of scientists, like the opening of Watson and Cry.) The only thing we can say on it: "This is yes!" This discovery is a wonderful confirmation of creating on the plan and a huge challenge of the Darwinian Empire. I wonder how evolutionists will try to correct their simplified history of random mutations and natural selection, which was invented by another 19 centuries in the light of these new data.

You understood what they say Tehor and Valkarsl? Views may have their own code, typical of these species. "Therefore, the future methods will have to establish the exact interaction between the histone [epigenetic] code and the splicing code," they say. Translated this means: "Darwinists are not here. They are simply not able to cope with it. " If the simple genetic code of Watson-Creation was a problem for Darwinists, what will they say now about the splicing code, which from the same genes creates thousands of transcripts? And how will they cope with the epigenetic code that manages the expression of genes? And who knows, maybe in this incredible "interaction", about which we just start learning, other codes are involved, resembling a rosette stone, just starting to appear from the sand?

Now that we reflect on codes and computer science, we begin to think about different paradigms of a new study. What if the genome partially acts as a data storage network? What if there is cryptography or compression algorithms occur? We should remember the modern information systems and information storage technologies. Maybe we will even find elements of steganography. Undoubtedly, there are additional sustainability mechanisms, such as duplication and corrections that may help explain the existence of pseudogen. Copying the entire genome can be stressful reactions. Some of these phenomena can be useful indicators of historical events that have nothing to do with a universal general ancestor, but help to explore comparative genomics within computer science and stability design, and also help to understand the cause of the disease.

Evolutionists are strongly difficult. Researchers tried to change the code, and received only cancer and mutations. How are they going to pass through the field of adaptability, if everything is minced by catastrophes, waiting for its o'clock, as soon as someone begins to interfere with these inextricably related codes? We know that there is some built-in stability and tolerability, but the entire picture is an incredibly complex, developed, optimized information system, and not an erratic connection of parts that can be played infinitely. The whole idea of \u200b\u200bthe code is a concept of reasonable design.

A. E. Wilder Smith attached particular importance. The code implies an agreement between two parts. The agreement is in advance. It implies planning and purpose. The SOS symbol would say Wilder Smith, we use by agreement as a disaster signal. SOS does not look like a disaster. It does not smell like a disaster. It is not felt as a disaster. People would not understand that these letters denote disaster if they did not understand the essence of the agreement itself. Similarly, Codon Alanine, Hzz, does not look like, does not smell and does not feel like alanine. The codon would have no relation to Alanine, if between the two coding systems (protein code and the DNA code) there was no predetermined agreement that "the HCC should mean Alanine." To transfer this agreement, a family of converters is used, aminoacil-tall synthetases that translate one code to another.

This was to strengthen the theory of plan in the 1950s and many creationists were effectively preached. But evolutionists are similar to eloquent merchants. They wrote their fairy tales about Fairy Din-Ding, which disassembles the code and creates new types by mutation and selection, and convinced many people that miracles can occur today. Well, well, today outside the window of the 21st century and we are known for epigenetic code and splicing code - two codes that are much more complicated and dynamic than simple DNA code. We know about codes inside the codes, about codes over codes and under codes - we know a whole hierarchy of codes. This time, evolutionists cannot simply insert a finger into a gun and with bluff convince us with their beautiful speeches, when the guns are placed on both sides - a whole arsenal aimed at their main elements of the design. All this game. A whole era of informatics increased around them, they have long come out of fashion and look like the Greeks who are trying to climb with spears on modern tanks and helicopters.

It's sad to recognize, but evolutionists do not understand this, or even if they understand, they are not going to give up. By the way, this week, just when an article was published on the splicing code, the most evil and hated rhetoric, aimed against Creatingism and reasonable valve, was published from the Pages of Srelvanin magazines and newspapers. We have to hear about many similar examples. And while they keep microphones in their hands and control institutes, many people will come across their fishing rod, thinking that science continues to give them a sufficient basis. We tell you all this so that you read this material, we studied it, understood and stored with the information that you need to fight the truth of this fanatical, misleading nonsense. And now, forward!

After the opening of the rules of the genetic code, in which hereditary information is rewritten from the nucleotide language into the amino acid language, they were considered universal. It is known at least 30 cases when the genetic code is used in a somewhat modified form. Changes can be the most diverse: the codon value will change, the stop codon will start encoding some kind of amino acid, the usual codon will begin to perform the role of starting. We offer you ten cases of the most curious deviations from the standard genetic code.

Despite the generally accepted "standard" genetic code, several dozen examples are known when living organisms use a slightly modified version. Some changes are inherent in the whole taxa, and some are found in total in several species. There are cases when part of the mRNA of a certain gene is broadcast according to the standard rules, and the other is modified. For example, when broadcasting MRNA Malatehydrogenase of a person, which is encoded in the kernel, in 4% of cases, the standard stop codon encodes tryptophan and arginine. Very often, deviations from the standard genetic code are observed only in some organelles. So, for the first time the fact of the existence of such deviations was confirmed in 1979, showing that the genetic code of human mitochondria differs from nuclear. Our article is devoted to the most amazing cases of deviation of the genetic code from the standard.

Biomolecule has repeatedly wrote about the genetic code. Article " Such different synonyms»Is devoted to the phenomenon of codon preferences. In the articles " "And" Evolution of genetic code"It is described about the evolution of the genetic code, and in publications" Advanced Genome"And" Four letters word»You can read about the prospects for its artificial expansion.

Blastocrithidia.

At the simplest rhodation Blastocrithidia.Related tryprosomas (Fig. 1), the genetic code used in broadcasting nuclear genes, in the literal sense of "without brakes": All three stop codons encode amino acids. Code UGA encodes tryptophan, and UAG and UAA - glutamate. At the same time, UAA and, less often, UAG still can act as terminator codons. It turned out that one of the proteins necessary for the release of ribosomes from mRNA after broadcast, eRF1, Extremely important serine residue is replaced with another amino acid, which lowers its affinity to UGA, due to which this stop codon can function as a semantic. However, it is definitively unknown, thanks to which the UAG and UAA can also act as semantic, and as terminator codons.

Condylostoma Magnum

At infusoria Condylostoma Magnum Each of the standard stop codons is able to act as a sense: UAA and UAG can encode glutamine, and UGA - tryptophan. However, the double coding mechanism of this body is completely different from Blastocrithidia.: The value of each of the standard stop codons depends on their position in mRNA. Stop codons located in the middle of the transcript are encoded by amino acids, and stop codons located near the 3'-end of mRNA, work "in the specialty" and perform the role of terminator. Probably 3'-untranslated areas of genes Condylostoma Magnumvery short and conservative and play a role in recognizing stop codons.

Acetohalobium arabaticum

Rhabdopleura Compacta.

Scenedesmus Obliquus.

Genetic Code of Mitochondria Green Algae Scenedesmus Obliquus. (Fig. 3) is unusual in that the UCA codon, which usually encodes leucine, functions as stop codon. In the mitochondrial genome of this algae there is no gene encoding TRNA corresponding to the UCA codon. Instead, in mitochondria Scenedesmus Obliquus. Leucine encodes the standard Stop Codon UAG.

Flat class worms Rhabditophora.

Radopholus Similis.

Infusories-shoes

Mitochondrial genetic code of infusorium-tuffle (Rod Paramecium.) It differs from standard primarily by the number of starting codons. The role of start-codons can perform as many as five or six: Aug, Aua, Auu, AUC, Gug and possibly gua. Since the mitochondrial genome of these organisms contains the genes of only three TRNA, most of the TRNA comes from the cytoplasm. In this regard, in mitochondria, infusorium-shoes, as in the core of many infusories, stop codons UAG and UAA are coding glutamine.

Ashbya Gossypii.

In yeast Ashbya Gossypii. In mitochondria codon Cuu, usually encoding leucine, encodes alanine. It is surprising that two other leucine codon, CUC and CUG, in the mitochondrial genome are completely absent, therefore, these organisms leucine is encoded only by two codons - UUG and UUA - instead of standard five.

Mycobacterium Smegmatis.

Bacteria Mycobacterium Smegmatis. Asparaginic codons acquire additional importance in the stationary growth phase, as well as under low pH. It is even more curious that, thanks to the ambiguity of asparaginic codons, the RNA polymerase β-subunit occurs replacements that retain its functionality, but they make an enzyme-resistant rifampicin antibiotic, blocking its work.

Of course, the variations of the standard genetic code are not limited to the examples given. However, exceptions only confirm the rule, and this is true for the genetic code. Despite the tremendous diversity of living organisms, exceptions from the genetic code are so rare, which is no more than curious curiosities. However, these exceptions serve as a valuable material for the reconstruction of the evolution of the genetic code and help deeper understand its fundamental properties.

Literature

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In this lesson, we learn about the meaning of protein biosynthesis for living organisms, about two stages of protein biosynthesis in a cell, transcription and translation, we show how the sequence of nucleotides in DNA encodes the sequence of amino acids in the polypeptide. We will also give the characteristic of the genetic code and its main properties from the standpoint of the unity of the origin of all living organisms of the Earth, consider the features of transcription in eukarot.

Transcription- The mechanism by which the base sequence in one of the chains of the DNA molecule is "rewritten" into the complementary sequence of the IRNK base.

For transcription, the presence of the RNA polymerase enzyme is necessary. Since in the same DNA molecule, there may be many genes, it is very important that the RNA polymerase starts the synthesis of information RNA with a strictly defined DNA place, otherwise in the IRNK structure will be recorded information about the protein, which is not in nature (not the necessary cell). Therefore, at the beginning of each gene, there is a special specific sequence of nucleotides, called promoter(See Fig. 7). RNA polymerase "recognizes" the promoter interacts with it and, thus, begins the synthesis of the IRNK chain from the right place. The enzyme continues to synthesize the IRNK, connecting new nucleotides to it, until it comes to the next "punctuation mark" in the DNA molecule - terminator. This is a sequence of nucleotides, indicating that the synthesis of IRNK should be stopped.

Fig. 7. Synthesis IRNK.

Prokaryotes, synthesized INK molecules can immediately interact with ribosomes and participate in protein synthesis. Eukaritis, the IRNN initially interacts with nuclear proteins and through nuclear pores it goes to cytoplasm, where it interacts with ribosomes, and protein biosynthesis is carried out.

Ribosomes bacteria differ from ribosome eukaryotic cells. They are smaller and contain a simpler protein set. This is widely used in clinical practice, since antibiotics exist, which selectively interact with the proteins of ribosomes of prokaryotes, but do not act on the proteins of eukaryotic organisms. At the same time, bacteria are either dying, or their growth and development stops.

There are antibiotics that selectively affect one of the stages of protein synthesis, such as transcription. These include rifamicines, produced by actinomycetes of the genus Streptomyces. The best antibiotic from this class is rifampicin.

Bibliography

1. Kamensky A.A., Kriksunov E.A., Book V.V. General biology 10-11 class Drop, 2005.
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Homework

1. Questions 1, 2 at the end of paragraph 26 (p. 101) Kamensky A.A., Kriksunov E.A., Book V.V. "General Biology", 10-11 class ()
2. What is the role of the RNA polymerase enzyme in the process of synthesis and-RNA?
3. What is a promoter and what is his role in the synthesis of INK?
4. What is the Terminator and what is his role in the synthesis of IRNK?
5. What is the further fate of the synthesized IRNK in the pricing cell and eukaryot?

Genetic code - a single system of recording hereditary information in nucleic acid molecules in the form of a sequence of nucleotides. The genetic code is based on the use of an alphabet consisting of only four letters A, T, C, G corresponding to DNA nucleotides. Total 20 kinds of amino acids. From 64 Codons three - UAA, UAG, UGA - do not encode amino acids, they were named nonsense-codons, perform the function of the punctuation. The codon (coding trinucleotide) is a unit of genetic code, the top of the nucleotide residues (triplet) in DNA or RNA encoding the inclusion of one amino acid. Genes themselves do not take part in protein synthesis. The mediator between the genome and protein is IRNK. The structure of the genetic code is characterized by the fact that it is triplet, i.e. consists of triplets (triples) of nitrogenous bases of DNAs that received the name of codons. Of 64.

Properties gene. Coda
1) Triplet: one amino acid is encoded by three nucleotides. These 3 nucleotides in DNA
A triplet is called, in the IRNA codon, in TRNA - anti-cycle.
2) redundancy (degeneration): amino acids of only 20, and triplets encoding amino acids 61, so each amino acid is encoded by several triplets.
3) Unambiguity: each triplet (codon) encodes only one amino acid.
4) Universality: genetic code is the same for all living organisms on Earth.
5.) Continuity and continuity of codons when reading. This means that the sequence of nucleotides is read by a triplet for a triplet without skipping, while the adjacent pulls do not overlap each other.

88. Heredity and variability - the fundamental properties of the living. Darwin understanding of the phenomena of heredity and variability.
Heredity They call the overall property of all organisms to maintain and transmit signs from the parent individual to the offspring. Heredity - This is a property of organisms to reproduce in generations a similar type of metabolism that has developed in the process of historical development of the species and manifests itself under certain conditions of the external environment.
Variability There is a process of high-quality differences between individuals of the same species, which is expressed either in a change under the influence of the external environment of only one phenotype, or in genetically determined hereditary variations resulting from combinations, recombinations and mutations that occur in a number of generations replacing each other and populations.
Darwin understanding of heredity and variability.
Under heredity Darwin understood the ability of the organisms to preserve its species, varietal and individual characteristics in the offspring. This feature was well known and was hereditary variability. Darwin analyzed in detail the value of heredity in the evolutionary process. He drew attention to the cases of one of the single-generation hybrids and the splitting of signs in the second generation, he was known for heredity associated with flooring, hybrid atavisms and a number of other phenomena of heredity.
Variability. By producing a comparison of many breeds of animals and varieties of plants, Darwin noticed that within any kind of animal and plants, and in culture within any variety and the breed there are no identical individuals. Darwin concluded that variability is inherent in all animals and plants.
Analyzing the material on animal variability, the scientist noticed that there are enough changes under conditions of content to cause variability. Thus, under the variability of Darwin understood the ability of the organisms to acquire new signs under the influence of environmental conditions. He differed the following form of variability:
Defined (group) variability (Now called modification) - a similar change in all individuals of offspring in one direction due to the influence of certain conditions. Certain changes are usually random.
Uncertain individual variability (Now called genotypic) - The emergence of a variety of minor differences in individuals of the same species, varieties, breeds, which, existing in similar conditions, is different from others. Such multidirectional variability is a consequence of an indefinite effect on the conditions of existence for each individual individual.
Correlative (or correlate) variability. Darwin understood the body as a holistic system, some parts of which are closely related to each other. Therefore, the change in the structure or function of one part often determines the change in other or others. An example of such variability can be the relationship between the development of the functioning muscle and the formation of the robe comb, to which it is attached. Many marsh birds have a correlation between the length of the neck and the length of the limbs: the birds with long necks have long limbs.
Compensation variability is that the development of some organs or functions is often the cause of oppression of others, i.e., there is an inverse correlation, for example, between the dairy and the feedstock of livestock.

89. Modification variability. The rate of reaction of genetically deterministic signs. Phenocopy.
Phenotypic The variability covers changes to the status of signs that occur under the influence of the conditions of development or environmental factors. The swing of modification variability is limited by the reaction rate. The resulting specific modification change of the attribute is not inherited, but the range of modification variability is due to heredity. In a leaking material, it is not involved in the change.
Reaction rate - This is the limit of modification variability. The reaction rate is inherited, and not the modifications themselves, i.e. The ability to develop a feature, and the form of its manifestation depends on environmental conditions. The reaction rate is a specific quantitative and high-quality characteristic of the genotype. There are signs with a wide reaction rate, narrow () and unambiguous norm. Reaction rate It has limits or boundaries for each biological species (lower and upper) - for example, enhanced feeding will lead to an increase in the mass of the animal, but it will be within the reaction rate characteristic of this type or rock. The reaction rate is genetically determined and is inherited. For different signs, the limits of the reaction rate differ greatly. For example, the wide limits of the reaction rate have the amount of fishing, the productivity of cereals and many other quantitative features, narrow limits - the intensity of the color of most animals and many other qualitative signs. Under the influence of certain harmful factors with which the person does not face in the process of evolution, the possibility of modification variability, which determines the reaction rate is excluded.
Fenocopy. - Changes in phenotype under the influence of adverse environmental factors, on manifestation similar to mutations. The resulting phenotypic modifications are not inherited. It has been established that the occurrence of phenocopuses is associated with the influence of external conditions for a certain limited stage of development. Moreover, the same agent, depending on which phase it acts, can copy different mutations, or one stage reacts to one agent, the other to another. Different agents can be used to cause the same phenocopy, which indicates the absence of communication between the result of the change and the affecting factor. Relatively easily reproduced the most complex genetic disorders of development, while copying signs is much more difficult.

90. The adaptive nature of the modification. The role of heredity and environment in the development, training and education of a person.
Modification variability corresponds to habitat, is adaptive. The modification variability is subject to such signs as the growth of plants and animals, their mass, painting, etc. The occurrence of modification changes is due to the fact that the conditions of the medium affect the enzyme reactions occurring in the developing body, and to a certain extent change its flow.
T. K. The phenotypic manifestation of hereditary information can be modified by the conditions of the medium, only the possibility of forming them under certain limits, called the norm of reaction, is programmed in the body's genotype. The reaction rate is the limits of the modification variability of the feature allowed with this genotype.
The severity of the characteristic of the implementation of the genotype in various conditions was the name of expressiveness. It is associated with the variability of the feature within the reaction rate.
The same sign can manifest itself in some organisms and absent from others having the same gene. The quantitative indicator of the phenotypic manifestation of the gene is called penetrant.
Expressiveness and penetrantiness is maintained by natural selection. Both patterns must be borne in mind when studying heredity in humans. Changing environmental conditions, can affect penetration and expressiveness. The fact that the same genotype may be the source of development of various phenotypes, is essential for medicine. This means that the burdened does not have to manifest itself. Much depends on the conditions in which there is a person. In some cases, diseases as a phenotypic manifestation of hereditary information can be prevented by observing a diet or drug intake. The implementation of hereditary information is depending on the medium forming on the basis of the historically established genotype, modifications are usually adaptive, since they are always the result of response reactions of the developing organism on environmental factors affecting it. Another nature of mutational changes: they are the result of changes in the structure of the DNA molecule, which causes a violation in the previously developed protein synthesis process. When the content of mice in conditions of elevated temperatures, they are born offspring with elongated tails and enlarged ears. Such a modification is adaptive, since the protruding parts (tail and ears) play a thermostatic role in the body: an increase in their surface allows you to increase the heat transfer.

The genetic potential of a person is limited in time, and quite rigid. If you miss the term of early socialization, it will fade, not having time to be implemented. A vivid example of this statement is numerous cases when babies in circumstances fell into the jungle and spent several years among the beasts. After returning to them into the human community, they could already fully catch up: to master the speech, to acquire enough complex skills of human activity, they have poorly developed mental functions of a person. This is evidence that the characteristic features of human behavior and activities are acquired only through social inheritance, only through the transfer of a social program in the process of upbringing and learning.

The same genotypes (at single-person twins), being in different environments, can give various phenotypes. Taking into account all the factors of the impact, the person's phenotype can be submitted consisting of several elements.

These include:biological codes encoded in genes; Wednesday (Social and Natural); Individual activity; mind (consciousness, thinking).

Interaction of heredity and medium in human development plays an important role throughout his life. But it acquires particular importance in periods of formation of the body: embryonic, thoracic, children's, adolescent and junior. It is at this time that there is an intensive process of the development of the body and the formation of personality.

Heredity determines how the body can be, but a person develops under the simultaneous influence of both factors - and heredity, and the environment. Today it becomes generally accepted that the adaptation of a person is influenced by two heredity programs: biological and social. All signs and properties of any individual are the result of the interaction of its genotype and medium. Therefore, every person has a part of nature, and the product of social development.

91. Combinative variability. The value of combinative variability in ensuring the genotypic diversity of people: marriage systems. Medical and genetic aspects of the family.
Combinative variability associated with obtaining new combinations of genes in genotype. This is achieved as a result of three processes: a) independent discrepancies of chromosomes during meyosis; b) random combination when fertilization; c) gene recombination due to crossing race. The hereditary factors (genes) are not changed, but their new combinations arise, which leads to the emergence of organisms with other genotypic and phenotypic properties. Thanks to combinative variability Created a variety of genotypes in offspring, which is of great importance for the evolutionary process due to the fact that: 1) increases the variety of material for the evolutionary process without reducing the viability of individuals; 2) The possibilities of the adaptation of organisms to the changing conditions of the medium are expanding and the survival of a group of organisms (populations, species) in such a way

The composition and frequency of alleles in people, in populations in many ways depend on the types of marriages. In this regard, the study of the types of marriages and their medical and genetic consequences is important.

Marriages can be: selective, indiscriminate.

To indiscriminate Pickle marriages include. PAMIKSIY (Greek.nixis is a mixture) - consolidated marriages between people with different genotypes.

Election marriages: 1.Autbriding - marriages between people who do not have related links on a predetermined genotype, 2.inbreeding - marriages between relatives, 3. Positive-assortative - marriages between individuals with similar phenotypes between (deaf-and-and-dumb, low-spirited, high with high, weakness with weakness, etc.). 4. Recently assocortive-Bracies between people with non-phenotypes (deaf-normal; low-high; normal - with freckles, etc.). 4.Ins - Marriages between close relatives (between brother and sister).

Inbred and incestant marriages in many countries are prohibited by law. Unfortunately, there are regions with a high frequency of inbred marriages. Until recently, the frequency of inbred marriages in some regions of Central Asia reached 13-15%.

Medical and genetic meaning Inbred marriages are very negative. With such marriages, homozigotization is observed, the frequency of autosomal-recessive diseases increases by 1.5-2 times. In the inbred populations there are inbred depression, i.e. The frequency of adverse recessive alleles increases sharply increasingly increases, child mortality increases. Positive-assortative marriages also lead to similar phenomena. Outbriding are positive in genetic relationship. With such marriages, heterosigotization is observed.

92. Mutation variability, classification of mutations in terms of changes in the lesion of hereditary material. Mutations in genital and somatic cells.
Mutation The change caused by the reorganization of reproducing structures, changes in its genetic apparatus. Mutations occur abruptly and are inherited. Depending on the level of change in the hereditary material, all mutations are divided into gene, chromosomal and genomic.
Gene mutations, or transgenation, affect the structure of the gene itself. Mutations can change DNA molecules of different lengths. The smallest plot, the change of which leads to the emergence of mutation, is called Muton. It can only be a pair of nucleotides. Changing the sequence of nucleotides in DNA determines the change in the sequence of triplets and ultimately - the protein synthesis program. It should be remembered that the disorders in the DNA structure lead to mutations only when reparations are not carried out.
Chromosomal mutationsChromosomal restructuring or aberrations are in changing the number or redistribution of hereditary material by chromosomes.
Perestroika are divided into nutricromosomic and interchromomy. Intrachromosomic restructuring consist in the loss of the chromosome (deletion), doubling or multiplying some of its areas (duplication), rotation of the chromosome fragment by 180 ° C by changing the sequence of gene location (inversion).
Genomic Mutations associated with a change in the number of chromosomes. Genomic mutations include Aneuploidia, haploid and polyploidia.
Aneuploidia Call a change in the number of individual chromosomes - the absence (monosomy) or the presence of additional (trisomy, tetrasomy, in general, polybitomy) chromosomes, i.e. unbalanced chromosomal set. Cells with a modified chromosome appear due to disorders in the mitosis or meyosis process, in connection with which the mitotic and meiotic aneuplody is distinguished. A multiple decrease in the number of chromosomal sets of somatic cells compared with the diploid haaploidia. A multiple passion for the number of chromosomal sets of somatic cells compared with the diploid, is called polyploydia.
The listed types of mutations are found both in sex cells and in somatic. Mutations arising in sex cells are called general. They are transmitted to subsequent generations.
Mutations arising in bodily cells at one or another stage of individual development of the body are called somatic. Such mutations are inherited by descendants of only the cell in which it occurred.

93. Gene mutations, molecular mechanisms of occurrence, the frequency of mutations in nature. Biological antimutation mechanisms.
Modern genetics emphasizes that gene mutations Enclosed in changing the chemical structure of genes. Specifically, gene mutations are replacements, inserts, loss and loss of nucleotide pairs. The smallest part of the DNA molecule, the change of which leads to mutation, is called Muton. It is equal to one pair of nucleotides.
There are several classifications of gene mutations. . Spontaneous (spontaneous) is called a mutation that occurs out of direct connection with any physical or chemical factor of the external environment.
If mutations are delivered by intentionally, the impact on the body factors of the known nature, they are called induced. The agent induced mutations is called mutagen.
The nature of Mutagenov is diverse - These are physical factors, chemical compounds. The mutagenic effect of some biological objects - viruses, simplest, helminths when penetrating them into the human body.
As a result of dominant and recessive mutations in the phenotype, dominant and recessive modified signs appear. Dominantmutations are manifested in the phenotype in the first generation. Recessive Mutations are covered in heterozygotes from natural selection, so they accumulate in the gene pool of species in large quantities.
An indicator of the intensity of the mutation process is the mutation frequency, which is calculated on average on the genome or separately for specific loci. The average mutation frequency is comparable to a wide range of living beings (from bacteria to humans) and does not depend on the level and type of morphophysiological organization. It is equal to 10 -4 - 10 -6 mutations on 1 locus for generation.
Antimutation mechanisms.
The protection factor against the adverse effects of gene mutations is the pair of chromosomes in the diploid karyotype of somatic eukarot cells. The pair of allest genes prevents the phenotypic manifestation of mutations if they have a recessive nature.
In the reduction of the harmful effects of gene mutations makes a phenomenon of extracting genes encoding vital macromolecules. Example, RRNA, TRNA genes, histone proteins, without which the vital activity of any cell is impossible.
The listed mechanisms contribute to the preservation of genes selected during the evolution and at the same time accumulating in the gene pool populations of various alleles to it, forming a reserve of hereditary variability.

94. Genomic mutations: polyploidy, haploidide, heteroploidy. Mechanisms of their occurrence.
Genomic mutations are associated with a change in the number of chromosomes. To genomic mutations include heteroploidia, gaploidiaand polyploidia.
Polyploidy - an increase in the diploid number of chromosomes by adding whole chromosomal sets as a result of a disorder of meiosis.
Polyploid forms have an increase in the number of chromosomes, a multiple of the haploid set: 3N - Triploid; 4n - Tetraploid, 5N - pentaploid, etc.
Polyploid forms of phenotypically differ from diploid: together with a change in the number chromosomes, hereditary properties are changed. In polyploid cells, the cells are usually large; Sometimes plants have giant sizes.
Forms resulting from the multiplication of chromosomes of one genome are called autopot. However, another form of polyploidy - allal palpidentia, at which the number of two different genomes is multiplied by the number of chromosomes of two different genomes.
A multiple decrease in the number of chromosomal sets of somatic cells compared with the diploid haaploidia. Gaplooid organisms in natural habitats are found mainly among plants, including higher (durab, wheat, corn). Cells of such organisms have one chromosome of each homologous pair, so all recessive alleles are manifested in the phenotype. This explains the reduced viability of haploids.
Heteroploidy. As a result of the violation of mitosis and meiosis, the number of chromosomes may vary and not becoming a multiple haploid set. The phenomenon when any of the chromosomes, instead of being a pair, turns out to be in the triple number, got a name trisomy. If trisomy is observed on one chromosome, then such an organism is called trisomic and its chromis set 2p + 1. Trisomy can be in any of the chromosomes and even several. With double trisomy, has a set of chromosomes 2p + 2, triple - 2p + 3, etc.
The opposite phenomenon trisomy. The loss of one of the chromosome from the pair in the diploid set is called monosomy, the organism is monosomomy; Its genotypic formula 2P-1. In the absence of two different chromosomes, the body is a double monosomic with genotypic formula 2P-2, etc.
From what has been said that anauploidy. Violation of the normal number of chromosomes, leads to changes in the structure and to a decrease in the viability of the body. The greater the violation, the lower the viability. A person has a violation of a balanced chromosome set entails painful states known under the common name of chromosomal diseases.
Mechanism of origin Genomic mutations are associated with the pathology of violation of the normal divergence of chromosomes in meyosis, as a result of which abnormal gears are formed, which leads to mutation. Changes in the body are associated with the presence of genetically heterogeneous cells.

95. Methods for studying human heredity. Genealogical and twin methods, their meaning for medicine.
The main methods of studying human heredity are genealogical, twin, population-statistical, dermatoglyphic method, cytogenetic, biochemical, method of genetics of somatic cells, modeling method
The genealogical method. The basis of this method is the compilation and analysis of the pedigrees. The pedigree is a scheme that reflects the relationship between family members. Analyzing the pedigrees are studying any normal or (more often) pathological sign in generations of people in related links.
Genealogical methods are used to determine the hereditary or non-deepeble character, dominance or recession, mapping chromosomes, clutch with floor, to study the mutational process. As a rule, the genealogical method is the basis for conclusions in medical and genetic consulting.
In the preparation of pedigrees apply standard designations. A person from which the study begins is to prove. The descendant of the marriage couple is called sibling, siblings, siblings, cousins \u200b\u200b- cousins, etc. Descendants who have a common mother (but different fathers) are called uni-utilous, and descendants that have a common father (but different mothers) - only one; If there are children from different marriages in the family, and they have no common ancestors (for example, a child from the first marriage of the mother and a child from the first marriage of his father), they are called consolidated.
With the help of the genealogical method, the hereditary condition of the studied attribute can be established, as well as the type of inheritance. When analyzing pedigrees in several features, the adhesive nature of their inheritance can be found, which is used in the compilation of chromosomal maps. This method allows you to study the intensity of the mutational process, evaluate the expressiveness and penetrant of the allele.
Twin method. It consists in studying the patterns of inheritance of signs in pairs of single and binary twins. Gemini are two or more child, conceived and born with one mother almost simultaneously. Distinguish single-rigany and multi-seaman twins.
One-way (monosigital, identical) twins arise in the earliest stages of the zygota crushing, when two or four blastomer retain the ability to develop into a full-fledged organism. Since the zygota is divided by mitosis, genotypes of single-square twins, at least initially, completely identical. Single twins are always one sex, during the period of intrauterine development, they have one placenta.
Divisiony (dizigotny, unidentic) arise when the fertilization of two or several simultaneously matured eggs. Thus, they have about 50% of general genes. In other words, they are similar to conventional brothers and sisters in their genetic constitution and can be both same-sex and in general solutions.
When comparing one-way and variant twins, brought up in the same environment, it is possible to conclude about the role of genes in the development of signs.
The twin method allows to make informed conclusions about the inherencebility of signs: the role of heredity, environment and random factors in determining certain signs of man
Prevention and diagnosis of hereditary pathology
Currently, the prevention of hereditary pathology is carried out on four levels: 1) missile defense; 2) Prepiece; 3) Prenatal; 4) Neonatal.
1.) Personal level
Carried out:
1. Sanitary control of production is to eliminate the impact on the body of the Mutagen.
2. Recommendation of women of childbearing age from work in harmful production.
3. Creating lists of hereditary diseases that are distributed on a certain
territory with ORD. Chastata.
2.Preotic level
The most important element of this level of prevention is the medical and genetic counseling (MGC) of the population informing the family about the degree of possible risk of birth of a child with a detectional pathology and assist in making the right decision to decide on.
Prenatal level
It is to carry out the prenatal (prenatal) diagnosis.
Prenatal diagnostics - This is a set of events, which is carried out in order to determine the hereditary pathology in the fetus and interruption of this pregnancy. The methods of prenatal diagnostics include:
1. Ultrasonic scanning (UZD).
2. Fetoscopy. - The method of visual observation of the fetus in the uterine cavity through an elastic probe equipped with an optical system.
3. Biopsy Chorione. The method is based on taking the chorion vice, cell cultivation and their study using cytogenetic, biochemical and molecular agenetic methods.
4. Amniocentesis- puncture of an oily bubble through the abdominal wall and taking
Amniotic fluid. It contains fetal cells that can be investigated
cytogenetically or biochemically depending on the proposed fruit pathology.
5. Cordocentsis- puncture of vessels of umbilical bodies and taking blood of the fetus. Future lymphocytes
Cultivat and exploit.
4.Nonatal level
In the fourth level, screening of newborns is carried out for the identification of autosomal recessive exchange diseases in the preclinical stage, when the treatment has begun in a timely manner makes it possible to ensure the normal mental and physical development of children.

Principles of treatment of hereditary diseases
Distinguish the following types of treatment.
1. Symptomatic (Impact on the symptoms of the disease).
2. Pathogenetic (Impact on the mechanisms of development of the disease).
Symptomatic and pathogenetic treatment does not eliminate the causes of the disease, because does not eliminate
Genetic defect.
The following techniques can be used in symptomatic and pathogenetic treatment.
· Correction malfunctions of surgical methods (Syndactilia, polydactylony,
the absence of the upper lip ...
· Replacement therapy, the meaning of which is to introduce into the body
missing or insufficient biochemical substrates.
· Induction of metabolism - Introduction to the organism substances that enhance the synthesis
Some enzymes and, therefore, speed up the processes.
· Inhibition of metabolism - introduction to the body of drugs binding and withdrawing
Anomalous exchange products.
· Dietherapy (healing nutrition) - elimination of food diet that
Cannot be learned by the body.
Perspectives: In the near future, genetics will develop hard, although it is today
very widespread in farm cultures (selection, cloning),
medicine (medical genetics, genetics of microorganisms). In the future, scientists hope
use genetics to eliminate defective genes and destruction of diseases transmitted
inheritance, be able to treat such severe diseases as cancer, viral
infections.

With all the shortcomings of the modern assessment of the radio bengenetic effect, there is no doubt about the severity of genetic consequences, waiting for humanity in the case of an uncontrolled increase in the radioactive background in the environment. The danger of further tests of atomic and hydrogen weapons is obvious.
At the same time, the use of atomic energy in genetics and selection allows you to create new methods to manage the heredity of plants, animals and microorganisms, to deeper the processes of genetic adaptation of organisms. In connection with the flights of a person in outer space, it is necessary to investigate the effect of the cosmic reaction to living organisms.

98. The cytogenetic method for the diagnosis of chromosomal human disorders. Amniocentesis. Karyotype and idiogram of a man chromosoma. Biochemical method.
The cytogenetic method is to study chromosomes with a microscope. Mitotic (metaphase), less often meiotic (profhase and metaphase) chromosomes are used more often than the object of the study. Cytogenetic methods are used, when studying the karyotypes of individual individuals
Obtaining material of developing intrauterine organism is carried out in different ways. One of them is amniocentesisWith the help of which the 15-16 week of pregnancy receive an amniotic fluid containing the products of the fetal life and cells of its skin and mucous membranes
The material taken under the amniocentsis is used for biochemical, cytogenetic and molecular chemical studies. The cytogenetic methods determine the gender of the fetus and detect chromosomal and genomic mutations. The study of amniotic fluid and fetal cells using biochemical methods allows you to detect the defect of protein genes of genes, but does not allow to determine the localization of mutations in the structural or regulatory part of the genome. An important role in identifying hereditary diseases and accurate localization of damage to the hereditary material of the fetus is played by the use of DNA probes.
Currently, with the help of amniocentesis, all chromosomal anomalies are diagnosed, over 60 hereditary metabolic diseases, the incompatibility of the mother and fetus according to erythrocyte antigens.
The diploid set of chromosomes of the cell characterized by their number, magnitude and shape is called karyotype. Normal human karyotype includes 46 chromosomes, or 23 pairs: Of these, 22 pairs of autosomes and one pair - genital chromosomes
In order to easier to understand the complex complex of chromosomes, which makes the karyotype, they are placed in the form of idiogram. IN idiogramchromosomes are located in pairwise in descending order, the exception is made for genital chromosomes. The largest pair was assigned No. 1, the smallest - №22. The identification of chromosomes is only much more difficult: a series of chromosomes has similar dimensions. However, recently, a clear differentiation of a human chromosome has been established by using a different kind of dyes along their length to paint with special methods and non-coloring stripes. The ability to accurately differentiate chromosomes is of great importance for medical genetics, as it allows you to accurately establish the nature of violations in the karyotype of a person.
Biochemical method

99. Kariotype and human idiogram. Characteristic of a karyotype of a person in normal
and pathology.
Karyotype - a set of signs (number, dimensions, shape, etc.) of a complete set of chromosomes,
inherent in cells of this biological species (species karyotype), this organism
(Individual karyotype) or lines (clone) cells.
To determine the karyotype, use microfotography or sketch of chromosomes during microscopy of cells of cells.
Each person has 46 chromosomes, two of which are sex. The woman has two x chromosomes
(Kariotype: 46, XX), and in men there are one x chromosome, and the other - y (karyotype: 46, xy). Study
The karyotype is carried out using a method called cytogenetics.
Idiogram - a schematic representation of a haploid set of chromosoma of the body, which
They are in a row in accordance with their dimensions, pairly in descending order of their size. The exception is made for sex chromosomes that are highlighted.
Examples of the most frequent chromosomal pathologies.
Down syndrome is a trisomy on the 21st pair of chromosomes.
Edwards Syndrome and is a trisomyu by the 18th pair of chromosomes.
Patau syndrome is a trisomy on the 13th pair of chromosomes.
The clanfelter syndrome is a polisomy by x chromosome in boys.

100.Gent genetics for medicine. Citogenetic, biochemical, population-statistical methods for studying human heredity.
The role of genetics in a person's life is very important. It is implemented with the help of medical and genetic counseling. Medical and genetic counseling is designed to rid humanity from suffering related to hereditary (genetic) diseases. The main goals of medical and genetic counseling are to establish the role of the genotype in the development of this disease and the prediction of the risk of having patients of descendants. Recommendations given in medical and genetic consultations regarding the conclusion of the marriage or forecast of the genetic usefulness of the offspring are aimed at ensuring that they are taken into account by consulted persons who voluntarily accept the appropriate decision.
Citogenetic (karyotypic) method. The cytogenetic method is to study chromosomes with a microscope. Mitotic (metaphase), less often meiotic (profhase and metaphase) chromosomes are used more often than the object of the study. Also, this method is used to study sex chromatin ( taurus Barra) Citogenetic methods are used, when studying the karyotypes of individual individuals
The use of the cytogenetic method allows not only to study the normal morphology of chromosomes and the karyotype as a whole, to determine the genetic floor of the body, but the main thing is to diagnose various chromosomal diseases associated with a change in the number chromosome or a violation of their structure. In addition, this method allows to study the processes of mutagenesis at the level of chromosomes and the karyotype. The use of it in medical and genetic counseling for the purposes of prenatal diagnosis of chromosomal diseases makes it possible through timely interruption of pregnancy to prevent the appearance of offspring with rude developmental impairment.
Biochemical method It is to determine the blood or urine of enzyme activity or content of some metabolic products. With this method, disorders are detected in the metabolism and due to the presence in the genotype of the adverse combination of allelic genes, more often than recessive alleles in a homozygous state. With timely diagnosis of such hereditary diseases, prophylactic measures make it possible to avoid serious developmental disorders.
Population statistical method. This method allows you to estimate the likelihood of the birth of persons with a certain phenotype in this group of the population or in nearby marriages; Calculate the frequency of carriage in the heterozygous state of recessive alleles. The method is based on the Hardy - Weinberg law. Hardy Weinberg Law - This is the law of population genetics. The law says: "In the conditions of an ideal population of gene frequency and genotypes remain constant from generation to generation"
The main features of human populations are: the community of the territory of the possibility of free marriage. Insolation factors, i.e., restrictions on the selection of spouses, a person may have not only geographical, but also religious and social barriers.
In addition, this method allows you to study the mutation process, the role of heredity and environment in the formation of a phenotypic polymorphism of a person on normal signs, as well as in the occurrence of diseases, especially with hereditary predisposition. The population-statistical method is used to determine the value of genetic factors in anthropogenesis, in particular in reoccupation.

101. Design disorders (aberrations) chromosomes. Classification depending on the change in genetic material. Meaning for biology and medicine.
Chromosomal aberrations arise as a result of chromosome restructuring. They are a consequence of the chromosome rupture, leading to the formation of fragments, which are further reunited, but the normal structure of the chromosome is not restored. The 4 main types of chromosomal aberrations are distinguished: lack, doubling, inversion, translocations, deletion - loss of a chromosome of a certain area, which is then usually destroyed
Lack There are due to the loss of a chromosome of a particular area. Lights in the middle part of the chromosome are called deletions. The loss of a significant part of the chromosome lead the body to death, the loss of minor sites causes a change in hereditary properties. So. When a shortage of one of the chromosomes in corn, its seedlings are deprived of chlorophyll.
Doubling It is related to the inclusion of the extra, duplicate segment of the chromosome. It also leads to the emergence of new signs. Thus, the drosophils of the striped eye gene is due to the doubling of a section of one of the chromosome.
Inversion They are observed when the chromosome is breaking and turning the separated plot to 180 degrees. If the gap occurred in one place, the fragment is attached to the chromosome as the opposite end, if in two places, the average fragment, turning over, is attached to the break points, but by other ends. According to Darwin, inversion plays an important role in the evolution of species.
Translocations arise in cases where the chromosome section from one pair is attached to the non-homologous chromosome, i.e. Chromosome from another pair. Translocationsections of one of the chromosoma is known in humans; It may be the cause of Daun's disease. Most translocations affecting large areas of chromosomes makes the body with a non-visual.
Chromosomal mutations Change the dose of some genes, cause the redistribution of genes between the clutch groups, change their localization in the clutch group. By this, they violate the gene balance of the cell cells, as a result of which deviations occur in the somatic development of individuals. As a rule, changes are distributed to several organ systems.
Chromosomal aberrations have a lot of importance in medicine. For Chromosomal aberrations there is a delay in general physical and mental development. Chromosomal diseases are characterized by a combination of many congenital vices. This vice is the manifestation of Down syndrome, which is observed in the case of trisomy along the small segment of the long shoulder 21 chromosome. The picture of the feline cry syndrome develops with the loss of a short shoulder section of 5 chromosomes. The person most often noted the defects of brain development, musculoskeletal, cardiovascular, urogenital systems.

102. The concept of species, modern views on the speciation. Criteria species.
View- this is a combination of individuals similar to the criteria of the form to such an extent that they can
Natural conditions cross and give prolific offspring.
Pretty offspring - The one that can multiply. An example of a trying offspring - mule (donkey and horses hybrid), he is free.
Criteria of type - These are signs for which 2 organisms compare to determine whether they belong to one type or different.
· Morphological - internal and external structure.
· Physiole-biochemical - how organs and cells work.
· Behavioral - behavior, especially at the moment of breeding.
· Environmental - a set of factors of the external environment necessary for life
Views (temperature, humidity, food, competitors, etc.)
· Geographical - Areal (distribution area), i.e. The territory on which this species lives.
· Genetic reproductive - the same amount and structure of chromosomes, which allows organisms to give prolific offspring.
The criteria of the type are relative, i.e. One criterion can not be judged on the form. For example, there are types of twins (at the malaria mosquito, in rats, etc.). They morphologically different from each other, but they have a different number of chromosomes and therefore do not give offspring.

103.Population. Its environmental and genetic characteristics and role in the speciation.
Population - The minimum self-reproducing grouping of individuals of one species, more or less isolated from other similar groups, inhabiting a certain range over a long series of generations, forming its own genetic system and forming its own ecological niche.
Environmental indicators of the population.
Number - The total number of individuals in the population. This value is characterized by a wide range of variability, but it cannot be lower than some limits.
Density - the number of individuals per unit area or volume. With increasing numbers, the population density is usually increasing
Spatial structure The population is characterized by the features of the placement of individuals in the occupied territory. It is determined by the properties of habitat and biological features of the species.
Poland Reflects a certain ratio of male and female individuals in the population.
Age structure Reflects the ratio of various age groups in populations, depending on the life expectancy, the time of the occurrence of puberty, the number of descendants.
Genetic indicators of the population. Genetically population is characterized by its gene pool. It is represented by the combination of alleles forming the genotypes of organisms of this population.
When describing populations or comparing them, a number of genetic characteristics are used. Polymorphism. The population is called polymorphic on this locus if two or more alleles occurs in it. If the locus is represented by the only allele, they talk about monomorphism. Exploring many loci, it is possible to determine among them a fraction of polymorphic, i.e. Assess the degree of polymorphism, which is an indicator of the genetic diversity of the population.
Heterozygency. An important genetic characteristic of the population is heterozygency - the frequency of heterozygous individuals in the population. It also reflects genetic diversity.
Camerage inbreeding. With this coefficient, the prevalence of nearby crossings in the population is estimated.
Genov Association. The frequencies of alleles of different genes may depend on each other, which is characterized by the coefficients of the association.
Genetic distances. Different populations differ from each other in the frequency of alleles. For quantitative evaluation of these differences, indicators are proposed, called genetic distances

Population- Elementary evolutionary structure. In the area of \u200b\u200bany kind of individuals are unevenly distributed. Sections of thick concentrations of individuals are interspersed with spaces where they are not much or no. As a result, more or less isolated populations arise, in which there is a systematically random free crossing (pamix). Crossing with other populations occurs very rarely and irregularly. Thanks to the pamix, in each population, a genuofund characteristic of it is characteristic of other populations. Namely population and should be recognized by the elementary unit of the evolutionary process

The role of populations is great, as practically all mutations occur inside it. These mutations are primarily associated with the isolation of populations and a gene pool, which differs due to their isolation from each other. The material for evolution is the mutational variability, which begins in the population and ends with the formation of the species.