Presentation on the topic "genetics". Biology presentation on the topic: "Medical genetics." Ready presentation on biology on the topic of genetics

Founder of genetics Gregor Mendel (Gregor Johann Mendel) () Austrian naturalist, botanist and religious figure, monk, founder of the doctrine of heredity (Mendelism). Using statistical methods to analyze the results of hybridization of pea varieties (), he formulated the patterns of heredity (Gregor Mendel was born on July 22, 1822, Heinzendorf, Austria-Hungary, now Ginchice. He died on January 6, 1884, Brunn, now Brno, Czech Republic. Gregor Mendel (Gregor Johann Mendel) () Austrian naturalist, botanist and religious figure, monk, founder of the theory of heredity (Mendelism). Using statistical methods to analyze the results of hybridization of pea varieties (), formulated the patterns of heredity (Gregor Mendel was born on July 22, 1822, Heinzendorf , Austria-Hungary, now Ginchice Died January 6, 1884, Brunn, now Brno, Czech Republic.

Genealogical method This method allows, using data on members of several related families, to determine the type of inheritance of any trait. This method allows, using data on members of several related families, to determine the type of inheritance of any trait.

Population method Population - genetic research is to determine the frequency of occurrence of genes and genotypes in the population. Research allows you to estimate the likelihood of having a child with a certain trait in a given population. Population-genetic studies consist in determining the frequency of occurrence of genes and genotypes in a population. Research allows you to estimate the likelihood of having a child with a certain trait in a given population.

(Marfan's disease, Marfan syndrome, arachnodactyly, dolichostenomelia) is a disease from the group of hereditary collagenopathies, human connective tissue diseases. Hereditary disease, included under the number in the McKusick tabulation system OMIM. The disease has multiple organ manifestations. In addition to characteristic changes in the organs of the musculoskeletal system (elongated bones of the skeleton, hypermobility of the joints), pathology is observed in the organs of vision and the cardiovascular system, which constitutes the classic triad. (Marfan's disease, Marfan syndrome, arachnodactyly, dolichostenomelia) is a disease from the group of hereditary collagenopathies, human connective tissue diseases. Hereditary disease, included under the number in the McKusick tabulation system OMIM. The disease has multiple organ manifestations. In addition to characteristic changes in the organs of the musculoskeletal system (elongated bones of the skeleton, hypermobility of the joints), pathology is observed in the organs of vision and the cardiovascular system, which constitutes the classic triad. Marfan syndrome

Phenylketonuria (phenylpyruvic oligophrenia) A hereditary disease of the group of fermentopathies associated with impaired metabolism of amino acids, mainly phenylalanine. Accompanied by the accumulation of phenylalanine and its toxic products, which leads to severe damage to the central nervous system, manifested, in particular, in the form of mental retardation. (phenylpyruvic oligophrenia) A hereditary disease of the group of fermentopathies associated with impaired metabolism of amino acids, mainly phenylalanine. Accompanied by the accumulation of phenylalanine and its toxic products, which leads to severe damage to the central nervous system, manifested, in particular, in the form of a mental disorder. Phenylalanine

Albinism (from Latin albus white), lack of normal pigmentation: in animals and humans, the skin, hair, iris, in plants, the green color of the whole plant or individual parts (variegation). A. a hereditary trait that depends on the presence of a recessive, i.e., suppressed, gene that blocks the synthesis of pigments in the homozygous state (see Homozygosity) (chlorophyll in plants, melanin in animals). (from lat. albus white), lack of normal pigmentation: in animals and humans, skin, hair, iris, in plants the green color of the whole plant or individual parts (variegation). A. a hereditary trait that depends on the presence of a recessive, i.e., suppressed, gene that blocks the synthesis of pigments in a homozygous state (see Homozygosity) (in plants of chlorophyll, in animals of melanin).

Down syndrome (trisomy on chromosome 21) is one of the forms of genomic pathology, in which the karyotype is most often represented by 47 chromosomes instead of the normal 46, since the chromosomes of the 21st pair, instead of the normal two, are represented by three copies (trisomy, see also Ploidy). There are two more forms of this syndrome: translocation of chromosome 21 to other chromosomes (more often to 15, less often to 14, even less often to 21, 22 and Y-chromosome) 4% of cases, and a mosaic version of the syndrome 5%. (trisomy on chromosome 21) is one of the forms of genomic pathology, in which most often the karyotype is represented by 47 chromosomes instead of the normal 46, since the chromosomes of the 21st pair, instead of the normal two, are represented by three copies (trisomy, see also Ploidy). There are two more forms of this syndrome: translocation of chromosome 21 to other chromosomes (more often to 15, less often to 14, even less often to 21, 22 and the Y chromosome) 4% of cases, and a mosaic variant of the syndrome 5%.

Klinefelter syndrome This is a manifestation of abnormal distribution of chromosomes, in which an additional X chromosome (47,XXY) is added to the normal male (46,XY) set of chromosomes in all or most cells of the body. This is a manifestation of abnormal distribution of chromosomes, in which an additional X chromosome (47,XXY) is added to the normal male (46,XY) set of chromosomes in all or most cells of the body.

"Meow Syndrome" is caused by a deletion of part of the 5th chromosome. Manifestation: dementia develops, the structure of the larynx is disturbed and the voice has a weak timbre. the cause is a deletion of part of the 5th chromosome. Manifestation: dementia develops, the structure of the larynx is disturbed and the voice has a weak timbre.

Medical genetic research Medical genetic consultation consists of 4 stages; diagnosis, prognosis, conclusion, advice. At the same time, frank and friendly communication between the geneticist and the patient's family is necessary. Counseling always begins with a clarification of the diagnosis of a hereditary disease, since an accurate diagnosis is a necessary prerequisite for any consultation. The attending physician, before referring the patient to a medical genetic consultation, should, using the methods available to him, clarify the diagnosis as much as possible and determine the purpose of the consultation. It is also necessary to use genealogical, cytogenetic, biochemical and other special genetic methods (for example, to determine the linkage of genes or use molecular genetic methods, etc.). Medical genetic consultation consists of 4 stages; diagnosis, prognosis, conclusion, advice. At the same time, frank and friendly communication between the geneticist and the patient's family is necessary. Counseling always begins with a clarification of the diagnosis of a hereditary disease, since an accurate diagnosis is a necessary prerequisite for any consultation. The attending physician, before referring the patient to a medical genetic consultation, should, using the methods available to him, clarify the diagnosis as much as possible and determine the purpose of the consultation. It is also necessary to use genealogical, cytogenetic, biochemical and other special genetic methods (for example, to determine the linkage of genes or use molecular genetic methods, etc.).

Conclusion. Genetics Today. The 21st century is the century of genetics ... for a person it is relevant .. because. firstly, many whitenings have a hereditary predisposition .. and knowing which genes, combinations of genes, we can predict certain diseases .. for example, it is already known for sure that essential hypertension in people with a hereditary predisposition has the highest probability of occurrence .. secondly, human genetics is relevant from the point of view of IVF .. we can select any signs for the unborn child .. integrate them into the genome of the egg and get a baby with the signs that we would like to have .. the whole difficulty here is the successful implantation of this egg and further development .. but work is still being done on this .. plus everything .. medical genetic sampling is actively being carried out .. even here in moscow .. in the genetic center .. on a kashirka like .. married couples come there and discuss the possible risk of having a child with certain pathologies ... based on the genealogical method and cytogenetic research. The 21st century is the century of genetics ... for a person it is relevant .. because. firstly, many whitenings have a hereditary predisposition .. and knowing which genes, combinations of genes, we can predict certain diseases .. for example, it is already known for sure that essential hypertension in people with a hereditary predisposition has the highest probability of occurrence .. secondly, human genetics is relevant from the point of view of IVF .. we can select any signs for the unborn child .. integrate them into the genome of the egg and get a baby with the signs that we would like to have .. the whole difficulty here is the successful implantation of this egg and further development .. but work is still being done on this .. plus everything .. medical genetic sampling is actively being carried out .. even here in moscow .. in the genetic center .. on a kashirka like .. married couples come there and discuss the possible risk of having a child with certain pathologies ... based on the genealogical method and cytogenetic research.

Genetics test Which method G. Mendel used: Which method G. Mendel used: Which of the two genes inhibits the action of the other: Which of the two genes inhibits the action of the other: How many types of gametes does a heterozygote form in a monohybrid cross: How many types of gametes does a heterozygote form in a monohybrid cross : How many types of gametes does a homozygote form in dihybrid crossing: How many types of gametes does a homozygote form in dihybrid crossing: If one nucleotide dropped out of the matrix RNA molecule during transcription, then such a mutation refers to: If one nucleotide dropped out of the matrix RNA molecule during transcription, then such a mutation refers to: If the set of sex chromosomes (heterosomes) in the male sex is XY, then such a male sex is: If the set of sex chromosomes (heterosomes) in the male sex is XY, then such a male sex is: human chromosomes: How many genotypes are formed in F2 when monogib in a hybrid cross: How many genotypes are produced in an F2 in a monohybrid cross: How many phenotypes are produced in an F2 in a dihybrid cross: How many phenotypes are produced in an F2 in a dihybrid cross: How many phenotypes are produced in an F1 with incomplete dominance: How many phenotypes are produced in an F1 with incomplete dominance:

Literature A.A. Kamensky, E.A. Kriksunov, VV Pasechnik Biology textbook class. Publisher: Bustard, 2008 A.A. Kamensky, E.A. Kriksunov, VV Pasechnik Biology textbook class. Publisher: Bustard, 2008

summary of presentations

Genetics

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Biology. Genetics. "Basic laws of heredity". Playback. heredity, principle. Save. life. Academician N.P. Dubinin. What is genetics? Who is the founder of the science of genetics? Genetics -. Patterns. Inheritance and. Variability. Signs. Mendel. Gregor. Johan. 1865 G. Mendel, Czech, Brno. 1900 Hugo De Vries, Correns, Cermak. (22 varieties of peas, 8 years old!). hybrid method? Explain the terms: gene, genotype, dominant gene, recessive gene. locus, phenotype, hybrid, Mendel's laws. Mendel's first law. (The law of dominance. - Genetics.ppt

Genetics Grade 9

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ELECTIVE COURSE in biology in grade 9. "Genetics Reveals Mysteries". Genetics studies two main properties of living organisms: heredity and variability. The founder of science is G. Mendel. For many years, man has been interested in the question of the similarity of parents and children. Why does like always produce like? How are traits of parents passed on to children? Why are children not exact copies of their parents? What are the reasons for species change? How is sex inherited? Where can knowledge of genetics be used? Genetics reveals secrets. Choose an elective course in GENETICS! - Genetics Grade 9.ppt

Laws of genetics

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Basic laws of genetics. Laws of heredity and variability. Heredity, variability. Gregor Johann Mendel. Variability. Modification variability of dandelion. mutational variability. Law of homologous series. Nikolai Ivanovich Vavilov. Monohybrid cross. An example of a problem solution. Cytological basis of monohybrid cleavage. Mendel's second law. Dihybrid cross. Crossing peas. Crossbreeding guinea pigs. Cytological bases of dihybrid crossing. Morgan's law. Inheritance of traits in Drosophila flies. Mechanism of sex determination in Drosophila. - Laws of genetics.ppt

PCR

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Molecular genetic methods of diagnostics. Carey Mullis. Amplification. Stages of PCR research. reaction components. DNA sequence. Stage. Annealing. Elongation. Process. Detection. Scheme of duplication of DNA fragments. PCR. Advantages of the PCR method. Disadvantages of the PCR method. PCR in real time. Detection of amplification products. Use of intercalating agents. melting curves. Some types of PCR. - PCR.ppt

genetic research

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"Human Genetics". Genetics Research methods Genetics and health Medical genetic research Conclusion. Genetics today Literature. Founder of genetics. Died January 6, 1884, Brunn, now Brno, Czech Republic. Genetics. - The science of the laws of heredity and variability of living organisms. Methods for the study of human genetics. genealogical method. population method. twin method. Research consists in the study of fraternal and identical twins in various conditions. cytogenetic method. biochemical method. The disease has multiple organ manifestations. - Genetic research.ppt

Methods of genetic analysis

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Fundamentals of genetic analysis. Karyotype. Human and guppy karyotypes. Methods of genetic analysis. Methods of genetic analysis. Gamete purity rule. Gregor Johann Mendel. Laws of Mendel. F2. The number of generated types. Methods of genetic analysis. Methods of genetic analysis. Serebrovsky Alexander Sergeevich. Representation of the complex structure of a gene. Basic principle of genetic analysis. Sign. A trait is determined by at least 5 genes. Phenotype. More than 10 genes. Algorithm for genetic analysis. It is necessary to choose parents homozygous for the studied traits. First generation analysis. - Methods of genetic analysis.pps

Genetic epidemiology

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Genetic epidemiology in human populations. Problems and prospects. Population classification. modern big cities. small populations. Human isolates. Search for isolates. Isolates. Efficiency. Dagestan isolates. genetic epidemiology. A number of researchers. genetic epidemiology. Today's ethnic groups of the Caucasus. Aul. genetic epidemiology. Archaeologists. genetic epidemiology. - Genetic Epidemiology.ppt

Applied genetics

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Applied genetics. The 20th century is the "Golden Age" of biology. Genetic engineering of bacteria. The structure of a bacterium. Use of genetically modified bacteria. Scheme of preproinsulin synthesis in transformed E.Coli cells. Getting insulin. Previously: isolated from the pituitary gland of dead people. In the 1970s. prohibited. Synthesized together with a signal peptide. Bovine somatotropin - stimulates cell division in animals. A "super strain" (4 plasmids) has been bred. Genetic engineering of eukaryotic objects. Transgenic organisms - genetically rearranged using genetic engineering methods. Problems. - Applied Genetics.ppt

Lesson Genetics

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Lesson topic. Objectives: Lesson plan. Course of the lesson: Actualization of knowledge. Drag the definition to the desired line. Determine dominant and recessive traits. Learning new material. Perform tasks on the screen. Insert missing words. Determine the karyotype of a woman and a man. Scheme of the emergence of male and female. Anomalies. Anomalies in animals Anomalies in humans - Morris Syndrome. Lesson conclusion. Consolidation of the studied material Grades for the lesson Homework. - Lesson Genetics.ppt

Sex Genetics

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Using an interactive whiteboard in a biology course. Sex genetics. During the classes. Why are girls born in some cases and boys in others? Gender is a set of signs and properties of an organism. Can sex be determined after fertilization. Can sex be determined before fertilization during the formation of gametes. Most often, sex is determined at the time of fertilization. somatic cells of the body. Each egg receives 22 autosomes. Sex-linked inheritance. Sex genetics. The role of autosomes in the formation of sex. Conclusions. Consolidation of the studied material. Homework. Explanatory note. - Sex Genetics.pptx

Fundamentals of genetics

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Topic: Fundamentals of pharmacogenetics. Lecture plan: Ecology, definition. Ecosystems, definition, stages of development. Pollution, pollutants. The impact of environmental pollution on the genetic health of the population. The value of pharmacogenetics in modern medicine and pharmacy. Genetic control of drug metabolism. Hereditary diseases and conditions provoked by the use of drugs. Major industrial pollutants. The main sources of food mutagens. Genetic Consequences of Radioactive Emissions in the Ural Region (according to UNSCEAR calculations). Total genetic consequences from Chernobyl in the first two generations (% of spontaneous level). - Fundamentals of Genetics.ppt

Sex Genetics in Biology

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Sex genetics. Explanatory note. It involves the collaboration of the teacher with the students of the whole class. The activities of the teacher and students are shown in the notes to the slides. Responds to the set didactic tasks of the lesson. Variable in the ways of presenting information / drawings, diagrams, tables /. The content is clear and easy to understand. Content. Autosomes - 5. Sex chromosomes - 6. Sex determination -7.8. Homogametic and heterogametic sex - 9,10, 11. Sex-linked genes - 12. Hemophilia inheritance - 13. Drosophila chromosome set - 14. What determines the sex of the unborn child? - Sex Genetics in Biology.ppt

Determining sex genetics

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Sex genetics. Sex determination. Chromosomes. Zygote. Drosophila sex. Red eyes. Reciprocal crossing. Sex determination. Female. diploid set of chromosomes. Sex determination. Autosomes. Inheritance of sex-linked traits. The human X chromosome. Genes located on the Y chromosome. The mother is a carrier of the hemophilia gene. Inactivation of one of the X chromosomes. Black color in cats. hemizygous genes. Brown-eyed woman. classic hemophilia. Chickens are black. The color gene is linked to the X chromosome. Hens and roosters. The gene responsible for the color of plumage. - Determination of the genetics of sex.ppt

Genetic sex determination

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Genetic sex determination. Floor. Job. Drosophila chromosome set. Chromosomes. Two X chromosomes. 5 types of chromosomal sex determination. A type. Huh xx. Absence of chromosomes. Cicadas. Haploid-diploid type. Inheritance. Sex-linked traits. sex chromosomes. The number of genes. - Genetic sex determination.ppt

Mechanisms of genetic sex determination

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"The genetics of sex". Sex genetics. Chromosomal sex determination. Chromosomes. sex chromosomes. Sex determination in humans. Male gender. Sex determination in birds. Female. Sex determination in bees. Bees and ants do not have sex chromosomes. trait inheritance. Hemophilia. Carrier of the hemophilia gene. The birth of a sick girl. This is possible in the marriage of a carrier woman. Diseases. - Mechanisms of genetic sex determination.ppt

genetics biology

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Project on the topic: "Genetics and human hereditary diseases". Project goals. “The queen gave birth on the night Not a son, not a daughter. Not a mouse, not a frog, But an unknown little animal ... ”A.S. Pushkin. Genetics is the science of the laws of heredity and variation. Gregor Mendel (1822-1884) - Czech scientist, founder of genetics. genealogical method. Inheritance of hemophilia. Down syndrome is a disease associated with the presence of an extra 21st chromosome (trisomy on the 21st chromosome). Treatment of hereditary diseases. Genetic fingerprinting is used: - Genetics Biology.ppt

Gender Determinants

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Gender and factors determining it. Reproduction is the property of living organisms to reproduce their own kind. Examples of asexual reproduction. examples of sexual reproduction. During sexual reproduction, specialized cells are formed - gametes. Sex is a complex trait that provides sexual reproduction. Hermaphroditism is the presence of both types of sex glands in an individual. Examples of true hermaphroditism. True synchronous hermaphroditism in an earthworm. Examples of false hermaphroditism (pseudohermaphroditism). Sex determination mechanisms. Phenotype. Nature has created various options for determining gender. - Factors that determine gender.ppt

Chromosomes

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Structure and functions of chromosomes. Types of chromosomes. Chromosome. The structure of chromosomes. centromere. The meaning of the centromere. Chromatid. Each chromosome contains hereditary instructions. Morphological types of chromosomes. homologous chromosomes. haploid set of chromosomes. diploid set of chromosomes. Functions of chromosomes. giant chromosomes. Giant chromosomes from salivary gland cells. Polytene chromosomes. Lampbrush chromosomes. The diploid set of chromosomes in plants. Diploid set of chromosomes in animals. Metaphase plate. Chromosome layout. All human chromosomes. Domestic cat karyotype. Karyotype. - Chromosomes.ppt

Genetics as a science

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Genetics. Sets the genotype of an individual from the phenotype of its offspring. In its final form, it was developed by G.-I. Mendel. First introduced by G.-I. Mendel. Based on the method of variation statistics. Studies are carried out in systems: in vivo, in vitro. Established the uniformity of hybrids of the first generation and splitting in the second. O. Sazhre (1763-1851) - combination of parental traits during hybridization. The study results have not been quantified. From 1870 to 1887, the cell theory was formed. Chromosomes were discovered, mitosis, meiosis, fertilization were described, and the constancy of chromosome sets was established. - Genetics as a science.ppt

History of genetics

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The history of the development of genetics. A.S. Pushkin. Theme of the lesson: genetics: the history of the development of science. Lesson objectives: Determine the goals and objectives of genetics in the modern world. Show the role of genetic knowledge in solving global problems of mankind. GENETICS (Greek Genesis - origin) - the science of heredity and variability of organisms. Gregor Johann Mendel (1822 - 1884). 1900 - the birth of genetics. Thomas Hunt Morgan (1866 - 1945). Lysenko and Lysenkoism. Lysenko Trofim Denisovich (1898 - 1976). History of genetics in dates. L. Kiselev. Kozma Prutkov said: look to the root. V.Z. Tarantula. The value of genetics in the modern world. - History of genetics.ppt

Development of genetics

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The history of the development of genetics from G. Mendel to the present day. Rostov region. The history of the development of genetics from G. Mendel to the present day. Year 1866 G. Mendel - the founder of the science of genetics. Year 1869. Johann Friedrich Miescher discovered nucleic acid. Year 1900. Formation of the science of genetics. Year 1920. With the active participation of Koltsov, the Russian Eugenic Society arose. Year 1939. Year 1953. - Development of genetics.ppt

Discoveries in genetics

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Genetics - past, present, future. The past of genetics. Discovery of the laws of heredity. 1900 - the year of the formal birth of genetics as a science. Hugo de Vries. Development of the chromosome theory. 1917 - the opening of the Institute of Experimental Biology, created by N.K. Koltsov. G. Meller. 1927 - N. K. Koltsov - the idea of ​​matrix synthesis. Discovery of nucleic acids as hereditary material. O. Avery. F. Griffith. 1929 - A. S. Serebrovsky - study of the functional complexity of the gene. V. Timofeev-Resovsky experimental determination of gene size. Beginning of the DNA era. M. Delbrück. - Discoveries in genetics.ppt

Genetic methods

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Origins. Peace-loving character, pliability, complaisance were especially appreciated. They said: “Choose your wife not with your eyes, but with your ears”, They took it “by good fame”. Even the proverb was: "Choose a cow by horns, and a bride by birth." Let's repeat the terms necessary for the successful assimilation of the topic of the lesson. Cytology karyotype population zygote autosome gene linked to polo trait. Homozygous heterozygous mutation genotype. Human genetics. a branch of genetics closely related to anthropology and medicine. Table "Characteristics of methods of human genetics". Methods of human genetics. Questions. cytogenetic method. - Methods of genetics.ppt

Basic concepts of genetics

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Lesson topic: HISTORY OF THE DEVELOPMENT OF GENETICS. Basic genetic concepts. Tasks: To deepen knowledge about the material carriers of heredity. Introduce the logic of scientific discovery. GENETICS (Greek Genesis - origin) is the science of heredity and variability of organisms. Genetics: the history of the development of science. Gregor Johann Mendel (1822 - 1884). 1900 - the birth of genetics. Thomas Hunt Morgan (1866 - 1945). History of genetics in dates. The value of genetics in the modern world: A) to solve the problems of medicine; b) in agriculture; c) in the microbiological industry and biotechnology. - Basic concepts of genetics.ppt

Genetic Algorithms

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Genetic algorithms. State. Problems. Perspectives. Lecturer, Honored Worker of Science and Technology of the Russian Federation, Doctor of Technical Sciences, prof. Technological Institute of the Southern Federal University in Taganrog. Research objects. Circuit and design design of REA and EVA. CAD of printed circuit boards, LSI, VLSI, SSBI, micro and nanoelectronic products. Decision making in uncertain and fuzzy conditions. The problem of choosing optimal solutions in problems of science and technology. Solving multi-extremal problems with linear and non-linear extremal functions. Simulation by functions of situations in real time. - Genetic algorithms.ppt

sex-linked inheritance

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Lesson topic: "Genetics of sex. Sex-linked inheritance." Lesson plan. Organizational moment Updating the knowledge of students. Working with terms. Learning new material. T. Morgan's work on sex determination. Concepts: "karyotype", "autosomes", "sex chromosomes". Inheritance of sex-linked traits. 3. Genetic (molecular) diseases. Chromosomal diseases. Consolidation. The solution of the problem. V. Summary of the lesson. Chromosomes that are identical in appearance in the cells of dioecious organisms are called autosomes. A pair of distinct chromosomes that are not the same in males and females are called sex chromosomes. - Sex-linked inheritance.ppt

Genotype

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Intellectual game "experts in genetics". Motto: Know Be able to Apply. What plant was studied by G. Mendel? What is called genetics? How is a dominant trait different from a recessive trait? Dominant gene - predominant A a A A Recessive gene - repressed aa. What is a genome? What is a genotype? A genotype is a set of interacting genes in an organism. What is called a phenotype? The phenotype is the totality of all internal and external features of an organism. What is variability? What is called heredity? State Mendel's first law. 1 Mendel's law. State Mendel's second law. -

What is genetics

is the science of the patterns of inheritance of traits in organisms.

Classification:

• Animals
• Person
• Plants
• Microorganisms

They play an important role:

• Medicine
• agriculture
• microbiological industry
• genetic engineering

Gene- a section of a DNA molecule (or a section of a chromosome) that determines the possibility of developing a separate trait, or the synthesis of one protein molecule.

Properties:

• discreteness
• Stability
• Lability
• Multiple allelism
• allele
• Specificity
• Pleiotropy
• expressiveness
• Penetrance
• Amplification

Classification:

• Structural- they contain information about the structure of proteins or RNA chains.
• Functional - are responsible for the correct structure of all other sections of DNA, for the synchronism and sequence of its reading.

Genotype, phenotype

Phenotype - a set of properties and characteristics of an organism

Genotype - the totality of all the genes of one organism.

alternative features

Alternative signs- opposite qualities of one trait or gene.

• dominant trait
• recessive trait

Discoverers of Mendel's laws

Erich Cermak Austrian geneticist. Crossed garden and agricultural plants

Gregor Mendel- the founder of genetics. He set up a series of experiments on peas. He drew correct conclusions from the experiment.

Carl Erich Korrens German biologist. Pioneer of genetics in Germany

I law of Mendel

The law of dominance: “When two homozygous organisms are crossed, differing in alternative variants of the same trait, all offspring from such a cross will be uniform and will carry the trait of one of the parents.”

II Mendel's law

The law of splitting: “when two descendants of the first generation are crossed with each other in the second generation, splitting is observed in a certain numerical ratio: according to the phenotype 3:1, according to the genotype 1:2:1”

III Mendel's law

The law of independent combination: “when two homozygous individuals are crossed, differing from each other in two or more pairs of alternative traits, genes and their corresponding traits are inherited independently of each other and are combined in all possible combinations.”

incomplete dominance

When crossing plants of the night beauty with purple flowers (AA) with a plant with white flowers (aa), all plants of the first generation will have an intermediate pink color. This does not contradict the rule of uniformity of G. Mendel's hybrids of the first generation: indeed, in the first generation, all the flowers are pink. When two individuals of the night beauty from the first generation are crossed, splitting occurs in the second generation, but not in a ratio of 3: 1, but in a ratio of 1: 2: 1, i.e. one flower white (aa), two pink (Aa) and one purple (AA).

Fomina Anna Borisovna

biology teacher

MBOU secondary school No. 6, Kirzhach

Vladimir region

Difficulties in studying human genetics

• The impossibility of free crossing.
• Few offspring.
• Long life cycle.
• Large number of chromosomes.
• Genotypic and phenotypic polymorphism

• Selection of couples appropriate to the study.
• Track the inheritance of traits over several generations.
• Microscopic study of chromosomes, the latest methods of working with DNA.

one). Cytogenetic - analysis of the karyotype in normal and pathological conditions

Methods for studying human genetics

2). Gemini - studies the role of heredity and environment in the development of the human body

Monozygotic

dizygotic

Chang and Eng Bunker are Siamese twins.

Polyembryony is a special type of vegetative reproduction. The embryo is divided into several fragments, each of which independently develops into a full-fledged individual.

Methods for studying human genetics

3). Genealogical - compilation and analysis of pedigrees

• Sets the type of trait inheritance (dominant, recessive, sex-linked).
• Determines the possibility of manifestation of hereditary diseases

Pedigree rules.

1. The pedigree is depicted so that each generation is on its own horizontal line. Generations are numbered in Roman numerals (top to bottom).

2. Drawing up a pedigree begins with proband *.

3. First, next to the proband, place the symbols of his siblings in the order of birth, starting with the eldest (from left to right), connecting them with a graphic yoke.

4. Above the line of the proband, indicate the parents, connecting them to each other with the line of marriage, above the line of the parents, draw the line of grandparents.

5. On the line of parents, depict the symbols of their brothers and sisters with spouses.

6. On the line of the proband, indicate his cousins ​​and sisters, connecting them accordingly with the line of parents. If the proband has nephews, place them on a line below the proband's line.

hereditary diseases

• Congenital(chromosomal)

• Inherited:- genetic; - multifactorial

Deviations due to nondisjunction of chromosomes in humans

47 (in 21 pairs of trisomy

"Cleft palate"

Symptoms

Kline-felter

47 (trisomy in the 15th pair)

Meeting frequency

Shereshevsky-Turner

Genetic diseases

Albinism

Genetic diseases

sickle cell anemia

Multifactorial diseases - with a hereditary predisposition

Mental and nervous diseases

per 1000 people

Schizophrenia

Epilepsy

Affective insanity

Somatic diseases of average age

Bronchial asthma

Pimenov A.V.

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Features of the study of human genetics

Currently, the main object of genetic research is the human being. For genetic research, a person is a very inconvenient object for a number of reasons:

• a person has a large number of chromosomes;
• experimental crossing is impossible;
• puberty comes late;
• a small number of descendants in each family;
• equalization of living conditions for offspring is impossible.

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genealogical method

However, despite these difficulties, human genetics is well understood. This was made possible through the use of a variety of research methods.

genealogical method. The use of this method is possible only in the case when direct relatives are known - the ancestors of the owner of the hereditary trait (proband) on the maternal and paternal lines in a number of generations or the descendants of the proband also in several generations. A proband is a person who begins the genetic examination of the family and the compilation of the pedigree.

When compiling pedigrees in genetics, a certain system of notation is used. After compiling the pedigree, its analysis is carried out in order to establish the nature of the inheritance of the trait under study.

• The male;
• Female;
• Gender not clear;
• The owner of the trait under study;
• Heterozygous carrier of the studied recessive gene;
• Marriage;
• Marriage of a man with two women;
• family marriage;
• Parents, children and the order of their birth;
• fraternal twins;
• Identical twins.

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genealogical method

A number of traits are inherited sex-linked:

• X-linked recessive inheritance - hemophilia, color blindness; X-linked dominant inheritance - dark tooth enamel.
• Y-linked - hypertrichosis (increased hairiness of the auricle), membranes between the fingers.

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genealogical method

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genealogical method

Determine if this trait is dominant or recessive?

Sick in every generation, a sick child only in sick parents - so this is a dominant gene.

Is this trait linked to sex chromosomes or autosomes?

With autosomes, since both men and women are equally affected.

Determine the genotypes of individuals for this trait (homozygosity, heterozygosity). Explain your reasoning.

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genealogical method

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genealogical method

A striking example of an X-linked recessive type of inheritance is the inheritance of hemophilia in the royal houses of Europe.

The use of the genealogical method showed that in a related marriage, compared with an unrelated one, the likelihood of deformities, stillbirths, and early mortality in the offspring increases significantly. In related marriages, recessive genes often go into a homozygous state, as a result, certain anomalies develop.

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genealogical method

• What can be said about the inheritance of this trait?
• Patients in every generation, only men get sick, so this sign is sex-linked.
• Is this trait linked to the X or Y chromosome?
• With the Y-chromosome, in sick men, all sons are sick, the probability of inheritance is 100% (holandric type of inheritance, the gene is located in a non-homologous region of the Y-chromosome).
• What trait is inherited by this type?

Hypertrichosis.

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genealogical method

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genealogical method

The following are inherited in an autosomal dominant manner:

• polydactyly, brachydactyly (short, due to the absence of phalanges on the fingers), the ability to roll the tongue into a tube, freckles, early baldness, brown eyes, wavy hair.

The lack of freckles, blue eyes, straight hair, albinism, red hair, and other traits are inherited as autosomal recessive.

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Albinism is a recessive trait

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What makes it difficult to study human genetics?

A person has a large number of chromosomes, experimental crossing is impossible, puberty comes late, a small number of offspring in each family, it is impossible to equalize living conditions for offspring.

• Who is a proband?
• The person from whom the genetic examination of the family and the compilation of the pedigree begin.
• How to determine by the pedigree whether a given trait is dominant or recessive?
• Sick in every generation, a sick child only in sick parents - so this is a dominant gene.
• Patients are not in every generation, a sick child in healthy parents means this is a recessive gene.
• How to determine by pedigree whether a trait is linked to autosomes or to the X chromosome?
• If the carriers of the trait are equally male and female, then the trait is linked to autosomes.
• If a trait is much more common in males, it is an X-linked recessive trait.

Let's summarize:

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What traits are inherited X-linked recessive?

Hemophilia, color blindness.

What traits are inherited in an X-linked dominant fashion?

Dark tooth enamel.

How to determine the linkage of a trait with the Y chromosome?

If the carriers of the trait are exclusively males, then the trait is linked to the Y chromosome.

What traits are Y-linked inherited?

Hypertrichosis, webbing between the toes.

Autosomal dominant traits include:

Freckles - no freckles; brown eyes - light eyes; straight hair - curly hair; normal pigmentation - albinism; early baldness - the absence of baldness;

Freckles, brown eyes, curly hair, normal pigmentation, early baldness.

Autosomal recessive traits include:

• Polydactyly - normal number of fingers; brachydactyly - normal fingers; the ability to roll the tongue into a tube - the absence of this ability; non-red hair - red hair.
• Normal number of fingers, normal fingers, no ability to roll tongue, red hair.

Let's summarize:

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twin method

Children born at the same time are called twins. They are monozygotic (identical) and dizygotic (fraternal).

Monozygotic twins develop from one zygote, which at the stage of crushing was divided into two (or more) parts. Therefore, such twins are genetically identical and always of the same sex.

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twin method

Monozygotic twins are characterized by a high degree of similarity (concordance) in many ways.

According to those traits that are controlled by genes, the similarity persists until old age.

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twin method

Dizygotic twins can be of the same or different sex. Unlike monozygotic twins, dizygotic twins are often characterized by discordance - dissimilarity in many ways.

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twin method

For all the above signs, concordance in monozygotic twins is significantly higher than in dizygotic twins, but it is not absolute. As a rule, the discordance of identical twins occurs as a result of intrauterine development disorders of one of them or under the influence of the external environment, if it was different.

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twin method

Thanks to the twin method, a person's hereditary predisposition to a number of diseases was clarified: schizophrenia, mental retardation, epilepsy, diabetes mellitus and others.

Observations on monozygotic twins provide material for elucidating the role of heredity and environment in the development of traits. Moreover, the external environment is understood not only as physical factors of the environment, but also as social conditions.

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The cytogenetic method is based on the study of human chromosomes in normal and pathological conditions. Normally, a human karyotype includes 46 chromosomes - 22 pairs of autosomes and two sex chromosomes.

The use of this method made it possible to identify a group of diseases associated either with a change in the number of chromosomes or with changes in their structure.

Cytogenetic method

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Cytogenetic method

• Such diseases are called chromosomal. These include: Klinefelter syndrome, Shereshevsky-Turner syndrome,
• Patients with Klinefelter's syndrome (47, XXY) are always men. They are characterized by underdevelopment of the sex glands, degeneration of the seminiferous tubules, often mental retardation, high growth (due to disproportionately long legs).
• The extra X chromosome condenses into a Barr body. Barr bodies are found in female cells and in cells of patients with Klinefelter's syndrome.

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Cytogenetic method

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Cytogenetic method

Down syndrome is one of the most common chromosomal diseases (1:774). It develops as a result of trisomy on chromosome 21 (47; 21,21,21).

The disease is easily diagnosed, as it has a number of characteristic features: shortened limbs, a small skull, a flat, wide nose, narrow palpebral fissures with an oblique incision, the presence of a fold of the upper eyelid, and mental retardation. Violations of the structure of internal organs are often observed.

The life expectancy of adults with Down syndrome has increased - today the normal life expectancy is over 50 years. Many people with this syndrome marry. Most men with Down syndrome are infertile. At least 50% of women with Down syndrome can have children. 35-50% of children born to mothers with Down syndrome are born with Down syndrome or other abnormalities.

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The older the woman, the greater the frequency of this syndrome among newborns.

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Biochemical method

The method allows you to detect metabolic disorders caused by changes in genes and, as a result, changes in the activity of various enzymes. Hereditary metabolic diseases are divided into diseases of carbohydrate metabolism (diabetes mellitus), amino acid metabolism (phenylketonuria), lipid metabolism (Tay-Sachs disease), minerals, etc.

Phenylketonuria refers to diseases of amino acid metabolism. The conversion of the essential amino acid phenylalanine to tyrosine is blocked, while phenylalanine is converted to phenylpyruvic acid, which is excreted in the urine. The lack of tyrosine causes insufficient formation of melanin. These children have blue eyes, skin and hair are poorly pigmented.

The disease leads to the rapid development of dementia in children. Early diagnosis and diet can stop the development of the disease. Urine gives a positive reaction with Felling's reagent (5% ferric chloride).

Tay-Sachs disease is caused by the accumulation of lipids in nerve cells, resulting in mental retardation, blindness, and muscle weakness.

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Biochemical method

• Human genetics is one of the most intensively developing branches of science.
• It is the theoretical basis of medicine, reveals the biological basis of hereditary diseases.
• Knowing the genetic nature of diseases allows you to make an accurate diagnosis in time and carry out the necessary treatment.

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