Presentation on the topic of gene and chromosomal diseases. Presentation "human genetic diseases". defects or giving

Hereditary diseases are human diseases caused by chromosomal and gene mutations. There are more than 6000 of them. The terms “hereditary disease” and “congenital disease” are often mistakenly used as synonyms, but congenital diseases are those diseases that are present at the birth of a child and can be caused by both hereditary and exogenous factors during pregnancy.

When a mutation occurs in a cell in the early stages of ontogenesis, tissues will develop from it, all cells of which will carry this mutation. The earlier a somatic mutation occurs, the larger the area of ​​the body that carries the mutant trait. In humans, somatic mutations often lead to the development of malignant tumors. Breast cancer is the result of somatic mutations In humans, somatic mutations often lead to the development of malignant tumors. Breast cancer is the result of somatic mutations Somatic mutations

Generative mutations 1. Monogenic - mutations in one gene The total frequency of gene diseases in the population is 1-2% The total frequency of gene diseases in the population is 1-2% Caused by mutations or absence of individual genes and are inherited in full accordance with Mendel's laws Caused by mutations or absence individual genes and are inherited in full accordance with Mendel's laws. Clinical manifestations arise as a result of the absence of certain genetic information, or the implementation of defective information. Clinical manifestations arise as a result of the absence of certain genetic information, or the implementation of defective information. Albinism

1.1 Autosomal dominant monogenic diseases The effect of the mutant gene is almost always manifested The effect of the mutant gene is almost always manifested Sick boys and girls are born with the same frequency. Affected boys and girls are born with equal frequency. The probability of developing the disease in the offspring is 50%. The probability of developing the disease in the offspring is 50%. It is based on a violation of the synthesis of structural proteins or proteins that perform specific functions (for example, hemoglobin) It is based on a violation of the synthesis of structural proteins or proteins that perform specific functions (for example, hemoglobin)

A hereditary connective tissue disease caused by multiple gene mutations, manifested by skeletal changes: tall stature with a relatively short body, long spider-like fingers (arachnodactyly), loose joints, often scoliosis, kyphosis, chest deformities (pitting or keel), arched sky. Eye lesions are also common. Due to abnormalities of the cardiovascular system, the average life expectancy has been reduced to 35 years. Morphan syndrome

The high release of adrenaline characteristic of the disease contributes not only to the development of cardiovascular complications, but also to the emergence in some individuals of special “strength of spirit” and mental talent. Treatment options are unknown. It is believed that Paganini, Andersen, Chukovsky suffered from it Arachnodactyly - elongation of joints

The strange tribe of ostrich people (Sapadi) in Central Africa is distinguished from other inhabitants of the Earth by an amazing property: they have only two toes on their feet, and both are big! This is called claw syndrome. It turned out that the first and fifth toes on the foot were highly developed, while the second, third and fourth were completely absent (as if they shouldn’t have existed at all!). This feature is fixed in the genes of the tribe and is inherited. Sapadi are excellent runners; they climb trees like monkeys, jumping from one tree to another. By the way, the gene that gives rise to this syndrome is dominant; it is enough for one of the parents to have it, and the child will be born with a deformity. Claw syndrome

The mutant gene appears only in the homozygous state, and the heterozygous state is the so-called “carrier.” Sick boys and girls are born with the same frequency. The probability of having a sick child is 25%. Parents of sick children may be phenotypically healthy, but are heterozygous carriers of a mutant gene. An autosomal recessive type of inheritance is more typical for diseases in which the function of one or more enzymes is impaired, so-called enzymopathies

Damage to a gene on chromosome 12. 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 impaired mental development. With timely diagnosis, pathological changes can be completely avoided if the intake of phenylalanine from food in the body is limited from birth until puberty. Phenylketonuria The main thing is a strict diet! Late initiation of treatment, although it gives a certain effect, does not eliminate previously developed irreversible changes in brain tissue

Sickle cell anemia Red blood cells carrying hemoglobin S instead of normal hemoglobin A have a characteristic crescent shape (sickle shape) under the microscope, which is why this form of hemoglobinopathy is called sickle cell anemia. Red blood cells carrying hemoglobin S have reduced resistance and reduced oxygen-transporting ability S-hemoglobin A -hemoglobin

Progeria Progeria (Greek progērōs prematurely aged) a pathological condition characterized by a complex of changes in the skin and internal organs caused by premature aging of the body Progeria (Greek progērōs prematurely aged) a pathological condition characterized by a complex of changes in the skin and internal organs caused by premature aging of the body

I started to get old, life is already short. For many people, it is like a river - rushing somewhere into the alluring distance, bestowing now joy, now sorrow, now sadness. Mine is like a rock with a waterfall that falls from the sky like a hail of silver; That drop that was given a second, Only to break on the rocks at the bottom. But there is no envy for the mighty river, Which flows smoothly along the path on the sand. Their destiny is one - having finished their wanderings, they can find peace in the seas of compassion. Even if my life is not long, I am not afraid of fate, After all, having turned into steam, I will return to the sky again. September 29, 2000 Bychkov Alexander Ashanti 7 years old with his mother.

Hemophilia Hemophilia is a hereditary disease characterized by decreased or impaired synthesis of blood clotting factors. Typically, men suffer from the disease, while women act as carriers of hemophilia. The most famous carrier of hemophilia in history was Queen Victoria of England, who passed on defective genes to her two daughters and son Leopold, and later to her grandchildren and great-grandchildren, including the Russian Tsarevich Alexei Nikolaevich, whose mother, Tsarina Alexandra Feodorovna, was a carrier of the hemophilia gene. Queen Victoria

They arise due to changes in the number or structure of chromosomes. For each disease, a typical karyotype and phenotype is observed (for example, Down syndrome - trisomy 21, karyotype 47). Chromosomal diseases are much more common than monogenic diseases and account for 12% of all mutations. They arise due to changes in the number or structure of chromosomes. For each disease, a typical karyotype and phenotype is observed (for example, Down syndrome - trisomy 21, karyotype 47). Chromosomal diseases are much more common than monogenic diseases and account for 12% of all mutations

Examples of diseases: Shereshevsky-Turner syndrome (lack of X in women - XO) Down syndrome (trisomy 21-XXX) Klinefelter syndrome (extra X in men - XXX) Cry of the cat syndrome (loss of a fragment of the fifth chromosome) Patau syndrome (trisomy 13-XXX ) Edwards syndrome (trisomy 18-XXX)

Down syndrome A disease caused by an anomaly of the chromosome set (trisomy 21 pairs of autosomes), the main manifestations of which are mental retardation, the peculiar appearance of the patient and congenital malformations. A transverse fold is often found on the palm. Frequency is 1 in 700 newborns.

Loss of a fragment of chromosome 5. With this syndrome, a characteristic cry of a child is observed, reminiscent of a cat's meow, the cause of which is a change in the larynx. The frequency of the syndrome is approximately 1: Sex ratio M1: F1.3. Cry of the cat syndrome web-local.rudn.ru Patau syndrome A characteristic complication of pregnancy when carrying a fetus with Patau syndrome is polyhydramnios: it occurs in almost 50% of cases. Patau syndrome (trisomy 13) causes severe birth defects. web-local.rudn.ru

Diseases are caused by the polymeric nature of the interaction of genes or a combination of the interaction of several genes and environmental factors (multifactorial diseases). Polygenic diseases are not inherited according to Mendelian laws. To assess genetic risk, special tables are used for some malignant neoplasms, developmental defects, as well as a predisposition to coronary artery disease, diabetes mellitus and alcoholism, cleft lip and palate, congenital hip dislocation, schizophrenia, congenital heart defects wos-l.ru

There are 37 genes in mitochondrial DNA; they are involved in energy production; therefore, diseases associated with mutations in mitochondrial genes cause energy deficiency in cells. At conception, the embryo receives its mitochondria from the mother's egg (the father's eggs die). 4. Mitochondrial mutations

Risk factors Physical factors (various types of ionizing radiation, ultraviolet radiation, electromagnetic radiation) Chemical factors (insecticides, herbicides, drugs, alcohol, some medications and other substances) Biological factors (smallpox, rubella, chickenpox, mumps, influenza viruses , measles, hepatitis. The woman’s age is over 35 years, consanguineous marriages, the presence of genetic diseases in the family).

At the Women's Clinic: Register with the Women's Clinic as early as possible! Optimally – 6-10 weeks of pregnancy. Perinatal screening of the 1st trimester – thickness of the fetal nuchal space in weeks (norm is up to 3 mm) and analysis of blood hormone levels weeks: ultrasound and blood levels of hCG and AFP – risk is calculated mathematically. Down, S. Edwards and neural tube defects of the week: high-quality ultrasound - visible anomalies of fetal development. Additionally, consultation with a geneticist: Clinical and genealogical method - analysis of the nature of family ties, age of parents, presence of sick children Cytogenetic method - determination of changes in the chromosomal apparatus, prenatal diagnosis - analysis of amniotic fluid Biochemical method - analysis of blood and urine parameters for the diagnosis of hereditary metabolic diseases Prevention Taking a sample of amniotic fluid

Treatment Diet therapy Replacement therapy Removal of toxic metabolic products Impact on enzyme synthesis Elimination of certain drugs (barbiturates, sulfonamides, etc.) Surgical treatment Today, a new method is actively developing - gene therapy. With this method, defective genes can be replaced by “healthy” ones and the disease can be stopped by eliminating the cause (defective gene). Gene therapy

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Contents: The concept of “genetics” The concept of hereditary diseases Chromosomal hereditary diseases Gene diseases Subgroups of hereditary diseases Monogenic hereditary diseases Polygenic hereditary diseases Chromosomal aberrations Down syndrome Rhine syndrome Diagnosis Prevention of congenital and hereditary diseases Conclusion List of references Types of hereditary diseases

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In 1905, the English naturalist William Bateson introduced the name of a new scientific discipline - genetics. In 1909, the Danish botanist Wilhelm Johannsen coined the term “gene”. Genes are marked sections of DNA or RNA - the molecule in which all genetic information is encoded. Genetics - (from Greek - originating from someone) - the science of the laws and mechanisms of heredity and variability.

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Hereditary diseases are based on disturbances (mutations) of hereditary information: chromosomal, gene and mitochondrial. Hereditary disease - diseases, the occurrence and development of which is associated with defects in the programmatic apparatus of cells, inherited through gametes. Congenital diseases that are caused by intrauterine damage caused, for example, by infection (syphilis or toxoplasmosis) or exposure to other damaging factors on the fetus during pregnancy should be distinguished from hereditary diseases. Many genetically determined diseases appear after some time. Thus, with Huntington's chorea, the defective gene usually manifests itself only in the third or fourth decade of life; the manifestation of signs of spinal muscular atrophy (SMA) is observed at the age of 6 months to 4-50 years (depending on the form of the disease).

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Chromosomal hereditary diseases All chromosomal diseases with a violation of the state of chromosomes can be divided into two large groups: a change in the number of chromosomes while maintaining the structure of the latter (genomic mutations); changes in chromosome structure (chromosomal mutations). All known types of mutations of both types have been described in humans. Numerical disorders may consist of a change in the ploidy of the chromosome set and a deviation of the number of chromosomes from diploid for each pair of chromosomes towards a decrease (monosomy) or an increase (polysemy). Genomic mutations make up the bulk of chromosomal diseases. Complete monosomies are observed on the X chromosome, leading to the development of Shereshevsky-Turner syndrome.

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Gene diseases Gene diseases are divided into two large groups: diseases with an identified primary biochemical defect; diseases with an unclear primary biochemical defect. The first group includes hereditary diseases of metabolism, protein biosynthesis, and enzymes.

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Among hereditary diseases that develop as a result of mutations, three subgroups are distinguished: monogenic hereditary diseases; polygenic hereditary diseases; chromosomal aberrations.

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Monogenic hereditary diseases Monogenic diseases are inherited in accordance with the laws of classical Mendelian genetics. Genealogical research reveals one of three types of inheritance: autosomal dominant, autosomal recessive and sex-linked inheritance. This is the widest group of hereditary diseases. Currently, more than 4000 variants of monogenic hereditary diseases have been described. (for example, phenylketonuria, hemophilia; frequency of sickle cell anemia - 1/6000). A wide range of monogenic diseases are formed by hereditary metabolic disorders, the occurrence of which is associated with gene mutation. Defect in mitochondrial genes transmitted primarily by the egg.

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Polygenic diseases were characterized as diseases with a hereditary predisposition. However, now they are discussed as multifactorial diseases with additive polygenic inheritance with a threshold effect. These diseases include diseases such as cancer, diabetes, schizophrenia, epilepsy, coronary heart disease, hypertension and many others. Polygenic hereditary diseases

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Chromosomal aberrations Chromosomal diseases are caused by a gross violation of the hereditary apparatus - a change in the number and structure of chromosomes. The reason, in particular, is the alcohol intoxication of the parents during conception (“drunk children”). These include Down syndrome, Klinefelter syndrome, Shereshevsky-Turner syndrome, Edwards syndrome, “cry of the cat” syndrome and others.

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Shereshevsky-Turner syndrome The clinical manifestations of this syndrome are: the absence of normal secondary sexual characteristics in women; short stature, close nipples, skeletal disorders, infertility, various defects of internal organs. The syndrome develops with complete X-monosomy, when all or most cells have a chromosome set.

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Down syndrome Down syndrome, named after the doctor who first described it in 1866, is caused by chromosome mismatch. Symptoms of Down's disease: reduced resistance to disease, congenital cardiac abnormalities, a short stocky body and thick neck, characteristic folds of skin over the inner corners of the eyes. Down syndrome and other similar anomalies are more common in children born to older women. The exact reason for this is unknown, but it has something to do with the age of the mother's eggs. Structural rearrangements of chromosomes, whatever their type, cause disturbances in the development of the organism due to either a lack of part of the material on a given chromosome (partial monosomy) or its excess (partial trisomy). An example is X polysomy in the absence of a Y chromosome. Such organisms have a chromosome set of 47.XXX, and although outwardly the women look normal and are fertile, they have mental retardation.

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1) diagnosis of heterozygous carriage; 2) prenatal (prenatal) diagnosis and intrauterine correction of fetal pathology; 3) preclinical (presymptomatic) diagnosis; 4) medical and genetic counseling; 5) early postnatal diagnosis (identification) of hereditary diseases that can be treated; 6) medical examination of families with hereditary pathology; 7) control of mutagenicity of environmental factors and hygienic regulation (prevention of new mutations); 8) promotion of medical and genetic knowledge. Several organizational forms of prevention of congenital and hereditary diseases can be distinguished: List of references used: http://ru.wikipedia.org www.Krugosvet.ru http://www.lechenieblog.ru/archives/24 Yu. Ya. Kerkis. Treatment and prevention of some hereditary human diseases. A. O. Ruvinsky. Human hereditary variability. Lilin E.T. and others. Genetics for doctors M., “Medicine”, 1990; Vogel F. Human Genetics, M., “Mir”, 1989.

Makhaeva Diana

Presentation on biology 9th grade

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HERITABLE HUMAN DISEASES Hereditary Human Diseases

The presentation was made by: Student of class 9 B of KSOSH No. 2 named after. F.I. Anisichkina. Makhaeva Diana

Definition: Hereditary diseases are human diseases caused by damage (mutations) to the hereditary apparatus (genome) of the cell.

Classification Hereditary Diseases Chromosomal Polygenic Mitochondrial Gene Monogenic

Gene Diseases Gene diseases are a group of diseases caused by mutations at the gene level. The general frequency of gene diseases in human populations is 2 - 4%. Currently, more than 5 thousand such hereditary diseases have been described.

Caused by mutations or absence of individual genes. They are inherited in full accordance with the laws of G. Mendel. The type of inheritance is autosomal or X-linked, dominant or recessive. Frequency of occurrence 1:10,000 -15,000. Monogenic Diseases

A hereditary connective tissue disease caused by a mutation in the gene encoding the structure of the fibrillin protein. Inherited in an autosomal dominant manner. Marfan syndrome Keeled chest Arachnodactyly

Famous people with Marfan syndrome S. de Gaulle A. Lincoln Akhenaten N. Paganini

A disease that affects the exocrine glands. The reason is a mutation (deletion of three nucleotides), leading to the absence of phenylalanine. Inherited in an autosomal recessive manner. Cystic fibrosis

A group of diseases, the development of which is based on disturbances in the number or structure of chromosomes that occur in the gametes of the parents or in the early stages of fragmentation of the zygote (fertilized egg). Chromosomal diseases

Causes of diseases associated with ploidy disorders caused by a violation of the number of chromosomes associated with changes in the structure of chromosomes. Chromosomal Diseases

Heart defects can occur alone or in combination with each other. Congenital heart disease can appear immediately after the birth of a child or occur hidden. Congenital heart defects occur with a frequency of 6-8 cases per thousand births, which is 30% of all developmental defects. They rank first in mortality of newborns and children of the first year of life. After the first year of life, mortality decreases sharply, and no more than 5% of children die between the ages of 1 and 15 years. Congenital heart disease The most common hereditary diseases.

Down syndrome is the presence of an extra chromosome in the body. It does not affect the child’s body and development in the best way. A person born with Down syndrome has another extra chromosome, the origin of which has not yet been solved by scientists. The occurrence of Down syndrome does not depend at all on the social, national or racial status of the parents. Such children, as a rule, have inhibited development: both physical and mental. Unadaptability to life and, in addition, a bouquet of additional diseases, including: heart disease, incurable diseases of the organs of hearing and vision. How can they survive in this harsh world? According to statistics, 92% of women terminated their pregnancy as soon as they found out that they would have a sick child, 94% abandoned their children in the maternity hospital. It turns out that only 6% of children with this syndrome can live fully, with the love and understanding of loved ones. Down syndrome

Angelman syndrome is a rare genetic disorder that causes developmental delays and neurological problems. Angelman syndrome is a classic example of hereditary imprinting, which is caused by deletion (loss of a portion of a chromosome) or inactivation of genes on the maternal 15th chromosome. Angelman syndrome

Sources A. Kamensky “Biology. Introduction to general biology and ecology. 9th grade http://www.likar.info/azbuka-zdorovya/article-63649-sindrom-angelmana/ http://panoramatest.ru/sindrom-dauna/ https://ru.wikipedia.org https://health .mail.ru/disease/vrojdennye_poroki_serdtca_vps/

Give up bad habits, because someone’s life lies in your hands! Thank you for your attention!

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Human genetic diseases that are inherited.

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What is this? Hereditary diseases are so called because the “breakage” affects a person’s genetic material, and, therefore, can be passed on from generation to generation. Hereditary diseases caused by the presence of a defect in genetic material.

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Types of gene mutations Based on the level of damage to the hereditary material, all genetic diseases can be divided into chromosomal, in which there is a change (increase or decrease) in the number of chromosomes in the genome, and monogenic (a change in the structure of one gene leads to the development of the disease).

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If a mutation occurs in any of the genes on a woman’s X chromosome, the disease may not manifest itself due to the presence of a normal copy of this gene on the second X chromosome. In men, the second chromosome is Y, so in this case the disease develops.

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Probability of heredity Each person is a carrier of several pathological genes. When both father and mother carry a mutation in the same gene, the child has a 25% chance of inheriting it from both parents. The probability that one of the parents will pass on a gene with a mutation and the other a normal one is 50%, and then a healthy carrier of the disease will be born, the same as each of the parents. It is also possible that both parents pass on genes to the child without mutation; its probability is 25%.

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Such diseases include hemophilia, cystic fibrosis, phenylketonuria, retinoblastoma, Down syndrome, ataxia, etc.

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Hemophilia Hemophilia is a hereditary disease characterized by a disorder of the blood clotting mechanism. Hemophilia occurs due to genetic disorders; in half of all cases the disease is familial.

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In 80% of cases, hemophilia is caused by the absence or deficiency of biologically active factor VIII, antihemophilic globulin, in the blood plasma. As a result, blood clotting time is prolonged and patients suffer from severe bleeding even after minimal trauma.

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Historical reference. Certain ethnic groups, in which consanguineous marriages are traditionally common, are characterized by their own monogenic diseases. If mother and father are closely related, there is a high risk that they both have damage to the same gene. This was typical for many royal and royal families. Russia was no exception.

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The last of the Romanov dynasty, Tsarevich Alexei, suffered from hemophilia, which was proven by scientists who conducted a study of the remains of the royal family found near Yekaterinburg. DNA analysis revealed traces of hemophilia. Many of Queen Victoria's descendants suffered from the disease. It should be taken into account that the heir to the Russian throne, Tsarevich Alexei, was her great-great-grandson.