Presentation on biology "human hereditary diseases". Gene diseases Hereditary human diseases presentation

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, and Chukovsky suffered from it. Arachnodactyly - lengthening of the 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, the second, third and fourth were completely absent (as if they should not 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 is 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, 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, related 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

Description of the presentation by individual slides:

1 slide

Slide description:

2 slide

Slide description:

Down's disease (one in 700 newborns) The diagnosis of this disease in a child must be made by a neonatologist in the first 5-7 days of the newborn's stay in the maternity hospital and confirmed by examining the child's karyotype. In Down syndrome, the karyotype is 47 chromosomes, the third chromosome is found on the 21st pair. Girls and boys suffer from this chromosomal pathology equally.

3 slide

Slide description:

Shereshevsky-Turner disease (disease frequency 1 in 3,000 girls) The first signs of pathology are most often noticeable at 10-12 years of age, when the girl is small in stature, low-set hair on the back of the head, at 13-14 years old there are no signs for menstruation. There is a slight mental retardation. The leading symptom in adult patients with Shereshevsky-Turner disease is infertility. The karyotype of such a patient is 45 chromosomes. One X chromosome is missing.

4 slide

Slide description:

Kleinfelter's disease (1: 18,000 healthy men, 1: 95 boys with mental retardation and one in 9 men with infertility) Diagnosis is most often made at 16-18 years of age. The patient has a high height (190 cm and above), often a slight mental retardation, long arms disproportionate to the height, covering the chest when circling it. When studying the karyotype, 47 chromosomes are observed - 47, XXY. In adult patients with Kleinfelter's disease, the leading symptom is infertility.

5 slide

Slide description:

The patient's parents are healthy people, but each of them is a carrier of a pathological gene and with a 25% risk they may have a sick child. More often such cases occur in related marriages. The essence of phenylketonuria is that the amino acid phenylalanine is not absorbed by the body and its toxic concentrations negatively affect the activity of the brain and a number of organs and systems. Retarded mental and motor development, epileptiform-like seizures, dyspeptic manifestations (disorders of the gastrointestinal tract) and dermatitis (skin lesions) are the main clinical manifestations of this disease. Phenylketonuria (The frequency of this pathology is 1:10,000 newborns)

6 slide

Slide description:

Cystic fibrosis (Disease frequency is 1:2500) Children under 1-1.5 years of age are recommended to be diagnosed to identify a severe hereditary disease. With this pathology, damage to the respiratory system and gastrointestinal tract is observed. The patient develops symptoms of chronic inflammation of the lungs and bronchi in combination with dyspeptic symptoms (diarrhea followed by constipation, nausea, etc.).

7 slide

Slide description:

Hemophilia (The incidence of hemophilia A is 1:10,000 men, and hemophilia B is 1:25,000-1:55,000) Mostly boys suffer from this pathology. The mothers of these sick children are carriers of the mutation. The bleeding disorder observed in hemophilia often leads to severe damage to the joints (hemorrhagic arthritis) and other damage to the body; any cuts cause prolonged bleeding, which can be fatal for a person.

8 slide

Slide description:

Duchenne muscular dystrophy (occurs in 3 per 10,000 boys) As with hemophilia, the mother is the carrier of the mutation. The skeletal-striated muscles, first of the legs, and over the years of all other parts of the body, are replaced by connective tissue that is incapable of contraction. The patient faces complete immobility and death, often in the second decade of life. To date, no effective therapy for Duchenne muscular dystrophy has been developed, although many laboratories around the world, including ours, are conducting research on the use of genetic engineering methods for this pathology.

Slide 9

Slide description:

Hypolactasia Lactose intolerance is a disease characterized by intolerance to lactose, a milk sugar found in mother's and cow's milk. It manifests itself in the form of diarrhea and bloating. The disease can appear immediately after birth or during life.

10 slide

Slide description:

Neurofibromatosis (observed in approximately every 3,500 newborns) Characterized by the occurrence of a large number of tumors in the patient. An important sign of the disease is the presence of many light brown spots on the skin.

11 slide

Slide description:

Huntington's disease (Prevalence is approximately 10 people per 100 thousand) Characterized by the fact that in middle-aged people (35-40 years old) periodic muscle twitching or spasms appear and gradual degeneration of brain cells occurs. Loss of coordination of movements occurs, speech becomes slurred. Gradually, all functions requiring muscle control disappear from under him: the person begins to grimace, experiences problems with chewing and swallowing. Memory problems gradually appear, depression, panic, and emotional deficit may occur.

12 slide

Slide description:

Polycystic kidney disease (Incidence is approximately 1 in 1000-1250 newborns) Associated with the formation of many large cysts in both kidneys, which reduces the amount of normally functioning tissue. Benign cysts are round “sacs” containing watery fluid. The greatest risk here is increased blood pressure and the development of kidney failure. In patients with the corresponding gene disorder, by the age of 80, the incidence rate is 100%; at a younger age it is slightly lower.

Slide 13

Slide description:

Risk group - have relatives who have suffered or are suffering from a hereditary disease; - age over 35 years; - there was exposure to radiation; - close relationship with the spouse (the closer the relationship, the higher the risk); - your spouse already has a child with a genetic disease; - infertility and multiple miscarriages; - live near industrial plants. Your blood is enough for the analysis!

• Hereditary
• human diseases

• Ekaterinburg, 2007

• Hereditary diseases:
• Classification
• Monogenic diseases
• Chromosomal diseases
• Polygenic diseases
• Risk factors for hereditary diseases
• Prevention and treatment of hereditary diseases

• Lesson Plan

• Hereditary diseases are human diseases caused by chromosomal and gene mutations.

• The terms “hereditary disease” and “congenital disease” are often mistakenly used as synonyms, but congenital diseases refer to those diseases that are present at the birth of a child and can be caused by both hereditary and exogenous factors.

• Hereditary diseases

• Classification
• hereditary diseases

• MONOGENIC

• CHROMOSOMAL

• POLYGENIC

• HEREDITARY DISEASES

• Autosomal dominant
• Autosomal recessive
• Interlocked with the floor

• genomic mutations
• chromosomal mutations

• They are caused by mutations or the absence of individual genes and are inherited in full accordance with Mendel’s laws (autosomal or X-linked inheritance, dominant or recessive).
• Mutations can involve either one or both alleles.

• Monogenic diseases

• Clinical manifestations arise as a result of the absence of certain genetic information or the implementation of defective information.
• Although the prevalence of monogenic diseases is low, they do not disappear completely.
• Monogenic diseases are characterized by “silent” genes, the action of which is manifested under the influence of the environment.

• Monogenic diseases

• It is based on a violation of the synthesis of structural proteins or proteins that perform specific functions (for example, hemoglobin)
• The effect of the mutant gene is almost always manifested
• The probability of developing the disease in the offspring is 50%.

• Autosomal dominant
• illnesses

• Marfan syndrome
• Albright's disease
• dysostosis
• otosclerosis
• paroxysmal myoplegia
• thalassemia, etc.

• Examples of diseases

• http://medarticle37.moslek.ru/articles/15184.htm

• Marfan syndrome

• A hereditary disease of connective tissue, manifested by skeletal changes: tall stature with a relatively short body, long spider-like fingers (arachnodactyly), loose joints, often scoliosis, kyphosis, chest deformities, arched palate. Eye lesions are also common. Due to abnormalities of the cardiovascular system, the average life expectancy is reduced.

• 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 fortitude and mental talent. Treatment options are unknown. It is believed that Paganini, Andersen, and Chukovsky had it.

• Arachnodactyly

• http://www.nld.by/imagebase/ib298/ib_stat14_1.htm

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

• Autosomal recessive
• illnesses

• Phenylketonuria
• Microcephaly
• Ichthyosis (non-sex linked)
• Progeria

• Examples of diseases

• Progeria (Greek progērōs prematurely aged) is a pathological condition characterized by a complex of changes in the skin and internal organs caused by premature aging of the body. The main forms are childhood progeria (Hutchinson (Hudchinson)-Gilford syndrome) and adult progeria (Werner syndrome).

• Progeria

• Progeria
• 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 is 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, 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

• http://images.yandex.ru/yandpage?&q=1900511643&p=0&ag=ih&text=%E8%F5%F2%E8%EE%E7%20%ED%E5%20%F1%F6%E5%EF%EB %E5%ED%ED%FB%E9%20%F1%20%EF%EE%EB%EE%EC&rpt=simage

• Ichthyosis (Greek - fish) is a hereditary dermatosis characterized by a diffuse disorder of keratinization such as hyperkeratosis, manifested by the formation of fish-like scales on the skin.

• Ichthyosis

• muscular dystrophy of the Duchenne type, hemophilia A and B, Lesch-Nyhan syndrome, Gunther's disease, Fabry disease (recessive inheritance linked to the X chromosome)
• phosphate diabetes (dominant inheritance linked to the X chromosome)

• Diseases,
• interlocked with the floor

• A. They arise due to changes in the number or structure of chromosomes.
• b. Each disease has a typical karyotype and phenotype (for example, Down syndrome).
• V. Chromosomal diseases are much more common than monogenic diseases (6-10 out of 1000 newborns).

• Chromosomal diseases

• Shareshevsky-Turner syndrome, Down's disease (trisomy 21), Klinefelter's syndrome (47,XXY), "cry of the cat" syndrome

• Genomic mutations

• A disease caused by an anomaly of the chromosome set (changes in the number or structure of autosomes), the main manifestations of which are mental retardation, the peculiar appearance of the patient and congenital malformations. One of the most common chromosomal diseases, occurs with an average frequency of 1 in 700 newborns.

• Disease
• Down

• A transverse fold is often found on the palm

• Disease
• Down

• Patient's karyotype

• They are caused by the interaction of certain combinations of alleles of different loci and exogenous factors.
• Polygenic diseases are not inherited according to Mendelian laws.
• Special tables are used to assess genetic risk

• Polygenic diseases
• (multifactorial)

• 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

• Examples of diseases

• Cleft lip and palate account for 86.9% of all congenital facial malformations

• Cleft lip and palate

• Physical factors (various types of ionizing radiation, ultraviolet radiation)
• Chemical factors (insecticides, herbicides, drugs, alcohol, some medications and other substances)
• Biological factors (smallpox viruses, chickenpox, mumps, influenza, measles, hepatitis, etc.)

• Risk factors

• Medical genetic counseling during pregnancy at the age of 35 years and older, the presence of hereditary diseases in the pedigree
• Exclusion of consanguineous marriages

• Prevention

• Diet therapy
• Replacement therapy
• Removal of toxic metabolic products
• Mediometori effect (on enzyme synthesis)
• Exclusion of certain medications (barbiturates, sulfonamides, etc.)
• Surgery

• Treatment

• http://www.volgograd.ru/theme/medic/stomatologiya/detskaya_stomatologiya/23256.pub
• http://images.yandex.ru/yandpage?&q=1900511643&p=0&ag=ih&text=%E8%F5%F2%E8%EE%E7%20%ED%E5%20%F1%F6%E5%EF%EB %E5%ED%ED%FB%E9%20%F1%20%EF%EE%EB%EE%EC&rpt=simage
• http://medarticle37.moslek.ru/articles/15184.htm
• ttp://www.nld.by/imagebase/ib298/ib_stat14_1.htm
• http://l.foto.radikal.ru/0612/08e0016d1d34.jpg
• Scietific.ru
• www/volgograd.ru

• Information sources