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| Autosomal hereditary diseases presentation. Human genetic diseases are inherited. Treatment of hereditary diseases |
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Lesson by topic: "Hereditary human diseases." chemistry and biology teacher  The purpose of the lesson: To acquaint students with diseases based on hereditary disorders; to form knowledge about specific genetic diseases, their cytological bases; give an idea of \u200b\u200bpossible ways to treat or prevent such diseases.  Choose the correct statements: 1. The genealogical method is the analysis of the pedigree. 2. Modification inheritance depends on the direct influence of the environment. 3. Mutations occur relatively frequently. 4. Twin method - microscopic study of human chromosomes. 5. Mutations are changes in the genetic material of an individual. 7. The immunogenetic method arose from the study of the inheritance of blood groups and the Rh factor. 8. Variability is a common property of living organisms to preserve the characteristics of their ancestors. 9. Autosomes are nonsex chromosomes. 10. Hereditary variability is divided into combinative and mutational.  Lesson plan:
   HEREDITARY DISEASES CHROMOSOMAL MONOGENE POLYGENIC genomic mutations chromosomal mutations Autosomal dominant Autosomal recessive Locked to the floor  " Characteristics of hereditary human diseases " Name of the disease Causes of the disease Disease manifestations Inheritance type Supplements  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 span one or both alleles. Clinical manifestations arise as a result of the lack of certain genetic information or the implementation of defective. Although the prevalence of monogenic diseases is low, they do not completely disappear. Monogenic diseases are characterized by "silent" genes, the action of which is manifested under the influence of the environment.  It is based on a violation of the synthesis of structural proteins or proteins that perform specific functions (for example, hemoglobin) 1.. The disease occurs in every generation of the pedigree. 2. The ratio of sick boys and girls is equal. 3. The disease in homozygotes is more severe than in heterozygotes. 4. The probability of having a sick child if one of the parents is sick is 50%. 5. There are cases when the disease is obliterated (incomplete gene penetrance). Examples of diseases: Marfan's syndrome, Albright's disease, dysostosis, otosclerosis, paroxysmal myoplegia, thalassemia, etc.  Marfan syndrome Hereditary connective tissue disease, manifested by changes in the skeleton: high growth with a relatively short torso, long spider-like fingers (arachnodactyly), joint laxity, often scoliosis, kyphosis, chest deformities, arcuate palate. Eye lesions are also characteristic. Due to abnormalities of the cardiovascular system, the average life expectancy is reduced.    And these are the famous gargoyles of the cathedral Notre Dame in Paris  Autosomal recessive diseases The mutant gene appears only in a homozygous state. Sick boys and girls are born with the same frequency. The probability of having a sick child is 25%. Parents of sick children can be phenotypically healthy, but they 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 Examples of diseases: Phenylketonuria, microcephaly, ichthyosis (not sex-linked), progeria.  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's (Hudchinson's) - Guildford syndrome) and adult progeria (Werner's syndrome).  Ichthyosis (Greek - fish) - hereditary dermatosis, characterized by a diffuse violation of keratinization by the type of hyperkeratosis, manifested by the formation of scales on the skin that resemble fish.  PHENYLKETONURIA amino acid metabolism disease. Described in 1934 by A. Fehling. The pathology is associated with a deficiency of the hepatic enzyme phenylalanine hydroxylase, which disrupts the conversion of phenylalanine to tyrosine (the formation of myelin sheaths around the axons of the central nervous system is disrupted). Clinical signs: increased excitability and muscle tone, tremor, epileptiform seizures, "mouse" odor, mental retardation, decreased melanin formation. Early prevention and treatment - artificial diet. Weak pigmentation of the skin and iris of the eye, moderate degree of oligophrenia  Sex-linked diseases Duchenne-type muscular dystrophy , 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). The disease manifests itself in children at 1-2 years of age, but can begin at an older age. The main manifestations of the disease are growth retardation and pronounced progressive deformities of the skeleton, especially of the lower extremities, which is accompanied by a violation of the child's gait ("duck gait"); significant soreness of bones and muscles, often muscle hypotension; radiologically detected rickets-like changes in bones, mainly of the lower extremities.  Hemophilia hereditary disease associated with violation of the blood clotting process. Hemophilia results from a change in one gene on the sex X chromosome. This disease is transmitted through the recessive trait of the sex X chromosome. The carrier of the gene for this disease is a woman, and only men are sick (the genotype of men with hemophilia - XhY). Therefore, this disease is sex-linked. In this disease, hemorrhages occur in the joints, muscles and internal organs, both spontaneous and as a result of trauma or surgery. With hemophilia, the risk of death of a patient from hemorrhage in the brain and other vital organs increases sharply, even with minor trauma. Patients with severe hemophilia are subject to disability, i.e. become disabled.  "Tsarist disease" The blood disease, which caused the early death of many heirs of the ruling dynasties of Great Britain, Germany, Spain and Russia, spread among the descendants of the British Queen Victoria, who, apparently, had a gene mutation. The disease of European monarchs is hemophilia.  Chromosomal diseases They are caused by a gross violation of the hereditary apparatus - a change in the number and structure of chromosomes. A typical reason, in particular, is the alcohol intoxication of the parents during conception ("drunken children"). These include Down syndrome, Klinefelter, Shereshevsky-Turner, Edwards, "cat's cry". and. They arise due to a change in the number or structure of chromosomes. b. Each disease has a typical karyotype and phenotype (eg Down's syndrome). at. Chromosomal diseases are much more common than monogenic diseases (6-10 out of 1000 newborns).  Klinefelter's syndrome XXY and XXXY - syndrome Klinefelter . Frequency of occurrence 1: 1000 Karyotype - 47, XXY, 48, XXXY, etc. Tall growth with disproportionately long limbs, in childhood - a fragile physique, in adults - obesity, hypogenitalism, underdevelopment of secondary sexual characteristics, hairiness, gynecomastia. Characterized by a decrease in sexual desire, impotence, infertility, a tendency to alcoholism, homosexuality, antisocial behavior.  Shereshevsky-Turner syndrome In Shereshevsky-Turner syndrome, instead of the XX-sex chromosomes inherent in the female body, there is most often one X-chromosome (45XO). Somatic signs: swelling of the hands and feet at birth, a skin fold on the neck, short stature (up to 140 cm), congenital heart defects, amenorrhea, infertility, decreased mental development. They are mainly socially adapted, they can get a specialty and work.  Down Syndrome Down syndrome (trisomy on chromosome 21) is one of the forms of genomic pathology (mutations), in which most often the karyotype (genotype) is represented by 47 chromosomes instead of the normal 46, since chromosomes of the 21st pair, instead of the normal two, are represented by three copies (XXX) ... The syndrome was named after the English physician John Down, who first described it in 1866.   Polygenic (multifactorial) diseases They are caused by the interaction of certain combinations of alleles of different loci and exogenous factors. Polygenic diseases are not inherited according to Mendel's laws. Special tables are used to assess genetic risk Examples: some malignant neoplasms, malformations, as well as a predisposition to ischemic heart disease, diabetes mellitus and alcoholism, cleft lip and palate, congenital dislocation of the hip, schizophrenia, congenital heart defects.  Factors That Cause Human Genetic Abnormalities
 Prevention of hereditary diseases. Medical genetic counseling during pregnancy at the age of 35 and older in the presence of hereditary diseases in the pedigree Exclusion of related marriages. However, some Indian tribes were described in which no hereditary diseases were found in blood marriages for 14 generations. It is known, for example, that Charles Darwin and Abraham Lincoln were born from family marriages. And Darwin himself was married to his cousin, and the three sons born in this marriage were absolutely healthy and later became famous scientists. A.S. Pushkin was born from the marriage of S.L. Pushkin with his second cousin niece Nadezhda Hannibal.  Ways to prevent hereditary diseases Prohibition of closely related marriages Prohibition of the use of alcohol, drugs, smoking The fight for a clean environment, especially against mutagens Medical genetic counseling Prenatal diagnosis of hereditary diseases  Diet therapy. Substitution therapy. Removal of toxic metabolic products. Impact on enzyme synthesis. Exclusion of certain drugs (barbiturates, sulfonamides, etc.) Surgery. Down Syndrome - At the moment, aminocentesis is considered the most accurate examination. Trisomy. Mosaicism is observed in about 5% of patients (not all cells contain an extra chromosome). In boys and girls, the anomaly occurs with the same frequency. For example, there are specific ultrasound signs of the syndrome. Specific traits. "Coma" - Pathogenesis of uremic coma. Sensitivity and reflexes are absent. With aging, plasticity disappears, the mass becomes hard and brittle. - the final stage of chronic renal failure. Clinic. Breathing slows down. Uremic coma. Muscle tone and tendon reflexes decrease. Cyanosis, tachycardia, hypotension. Has a characteristic opium odor. "Diseases of the respiratory system" - Breathing -. Signs: cough with phlegm, fever, shortness of breath. Tonsillitis (acute; chronic). Still, maybe it's worth thinking about ...? Distinguish between acute and chronic bronchitis. The main source is a patient with pulmonary tuberculosis, who secretes sputum with Mycobacterium tuberculosis. They call the exchange of gases between cells and the environment. "Gastrointestinal diseases" - 2. 8. Topic of the lesson: "Hygiene of digestion. 6. Do not force to eat through force. 11. Gastrointestinal diseases. Food poisoning. 14. 5. 7. Storing food without a refrigerator is dangerous. Prevention of gastrointestinal diseases ". Usually accompanied by weight loss of the patient, general malaise, dizziness, irritability, etc. "Diseases of organs" - 6. 12. 9. 3. 8. Store food supplies in refrigerators, cabinets, lockable jars and boxes. Worm diseases. 4. 24. It is necessary to consult a doctor. Signs. Diseases of the digestive system. 15. The most dangerous diseases.
1 of 23 Presentation on the topic: Slide No. 1
Slide Description: Slide No. 2
Slide Description: Color blindness, color blindness is a hereditary, rarely acquired feature of vision, expressed in the inability to distinguish one or more colors. Named after John Dalton, who first described a type of color blindness based on his own feelings, in 1794. Slide No. 3
Slide Description: John Dalton John Dalton 1766 - 1844 physicist, chemist was protanop (did not distinguish red color), but did not know about his color blindness until 26 years old. He had three brothers and a sister, and two of the brothers suffered from red color blindness. Dalton described his family vision defect in detail in a small book. Thanks to his publication, the word "color blindness" appeared, which for many years became synonymous not only with the visual anomaly in the red region of the spectrum described by him, but also with any violation of color vision. Slide No. 4
Slide Description: Cause of Color Vision Disorders In humans, color-sensitive receptors are located in the central part of the retina - nerve cells called cones. Each of the three types of cones has its own type of color-sensitive pigment of protein origin. One type of pigment is sensitive to red, another to green, and the third to blue. People with normal color vision have all three pigments (red, green and blue) in the cones in the required amount. Slide No. 5
Slide Description: Hereditary nature of color vision disorders The transmission of color blindness by inheritance is associated with the X chromosome and is almost always transmitted from the mother carrying the gene to the son, as a result of which it is twenty times more often manifested in men with a set of XY sex chromosomes. In men, a defect in a single X chromosome is not compensated, since there is no “spare” X chromosome. 2-8% of men are subject to varying degrees of color blindness, and only 4 women out of 1000. For the manifestation of a visual defect in a woman, a rather rare combination is necessary - the presence of a mutation in both X chromosomes. The manifestation of color blindness of this type is associated with a violation of the production of one or more light-sensitive pigments in the optic receptors of the cones. Some types of color blindness should not be considered a "hereditary disease", but rather a feature of vision. According to research by British scientists, people who find it difficult to distinguish between red and green colors can distinguish many other shades. In particular, shades of khaki color, which seem the same to people with normal vision. Perhaps in the past, such a feature gave its carriers evolutionary advantages, for example, it helped to find food in dry grass and leaves. Slide No. 6
Slide Description: Acquired color blindness This is a condition that only develops in the eye where the retina or optic nerve is affected. This type of color blindness is characterized by progressive deterioration and difficulty in distinguishing between blue and yellow colors. It is known that I.E. Repin, being in old age, tried to correct his painting "Ivan the Terrible and his son Ivan on November 16, 1581". However, others found that due to color vision impairment, Repin greatly distorted the color gamut of his own painting, and the work had to be interrupted. Slide No. 7
Slide Description: Slide No. 8
Slide Description: Slide No. 9
Slide Description: Hemophilia is a hereditary disease associated with impaired coagulation (blood coagulation); with this disease, hemorrhages occur in the joints, muscles and internal organs, both spontaneous and as a result of trauma or surgery. With hemophilia, the risk of death of the patient from hemorrhage in the brain and other vital organs sharply increases, even with minor trauma. Patients with severe hemophilia are subject to disability due to frequent hemorrhages in the joints and muscle tissue. Hemophilia results from a change in one gene on the X chromosome (recessive mutation). There are three types of hemophilia (A - 80-85%, B, C). Slide No. 10
Slide Description: Usually men suffer from the disease, while women act as carriers of hemophilia, who themselves do not usually get sick, but can give birth to sick sons or carrier daughters. The most famous carrier of hemophilia in history was Queen Victoria; Apparently, this mutation occurred in her de novo genotype, since hemophiliacs were not registered in the families of her parents. In theory, this could have happened if Victoria's father was not really Edward Augustus, Duke of Kent, but some other man with hemophilia, but there is no historical evidence to support this. One of Victoria's sons (Leopold Duke of Albany) suffered from hemophilia, as well as a number of grandchildren and great-grandchildren (born from daughters or granddaughters), including the Russian Tsarevich Alexei Nikolaevich. Slide No. 11
Slide Description: Slide No. 12
Slide Description: Slide No. 13
Slide Description: Methods of prenatal diagnosis, depending on the duration of pregnancy, are divided into: chorionic biopsy - obtaining cells from which the placenta is formed (gestation period 10-13 weeks) placental biopsy - obtaining placental cells (gestation period 14-20 weeks), which is technically similar chorionic biopsy The main task of the study during this period is to identify fetal malformations and signs of a complicated pregnancy. The main thing is to exclude most of the fetal malformations and markers of chromosomal diseases (more than 20) Slide No. 14
Slide Description: Each of the 23 chromosomes can be colored in its own color. Each chromosome is colored in a barcode. This allows you to see the change in the number and structure of chromosomes, including in tumor diseases. Tumor diseases are almost always associated with genome rearrangements. Human chromosomes are numbered in descending order of size from 1 to 22. Slide No. 15
Slide Description: John Langdon Haydon Down is the scientist who first described Down syndrome and called it "Mongolism". The doctor's surname coincides with the English word for "down", resulting in a popular misconception about the nature of Down syndrome (mental retardation) - however, the syndrome was named so in 1965 only by its own name. (In Russian, the use of the word "down" in relation to people with this chromosomal abnormality or as an insult is rude.) British geneticist Slide No. 16
Slide Description: The risk of having a baby with Down syndrome depends on the age of the mother. For women under the age of 25, the probability of having a sick child is 1/1400, up to 30 - 1/1000, at 35 years old, the risk increases to 1/350, at 42 years old - up to 1/60, and at 49 years old - up to 1 / 12. However, because young women generally give birth to many more children, the majority (80%) of all Down syndrome patients are actually born to young women under the age of 30. Today, every six hundredth child in the world is born with Down syndrome Indian scientists have found that the probability of having a child with Down syndrome strongly depends on the age of the maternal grandmother: the older she was when she gave birth to her daughter, the higher the probability of having sick grandchildren. This factor may be more significant than the other three previously known (mother's age, father's age, and degree of closeness in marriage). Slide Description: Characteristic. "Mongoloid" eyes, small rounded head, smooth moist edematous skin, dry thinning hair, small rounded ears, small nose, thick lips, transverse grooves in the tongue, which often stick out because it does not fit in the mouth. The toes are short and thick, the little finger is relatively small and usually curved inward. The distance between the first and second toes on the hands and feet is increased. The limbs are short, the height, as a rule, is significantly below normal. Sexual characteristics are poorly developed, and, probably, in most cases, the ability to reproduce is absent. The intellect of patients is usually reduced to the level of moderate mental retardation. The intelligence quotient (IQ) ranges between 20 and 49, although in some cases it can be above or below these limits. Even in adult patients, mental development does not exceed the level of a normal seven-year-old child. Slide Description: Edwards syndrome trisomy on the 18th chromosome occurs in newborns with a frequency of 1: 3300 to 1:10 000; in girls it is 3 times more often than in boys. Sick babies are often born prematurely or prematurely. Disorders in trisomy on chromosome 18 are much more severe than in Down syndrome; only 50% survive to 2 months of age; 10% live for 1 year. Average life expectancy for boys is 60 days, for girls - 280 days. Clinical picture: skull of an unusual shape (narrow forehead and a wide protruding nape), low ears, heart defects, severe mental retardation. Major metabolic and endocrine disorders, severe growth retardation. Slide No. 21
Slide Description: Slide Description: Shereshevsky-Turner syndrome is a clinical manifestation of an abnormality of one of the X chromosomes in women. Turner syndrome in 60% of cases is caused by monosomy of the X chromosome (karyotype 45, X). The prevalence among children born alive is 1: 5000 (girls 1: 2500). The syndrome is characterized by multiple malformations of the skeleton and internal organs. The most important phenotypic traits: short stature and complete absence of ovaries. Other signs: short neck with pterygoid skin folds, low hairline at the back of the head, barrel chest, facial distortion, O-shaped curvature of the arms (deformity of the elbow joints), X-shaped curvature of the legs. Hereditary diseases are human diseases caused by chromosomal and gene mutations. There are more than 6000 of them. Often the terms "hereditary disease" and "congenital disease" are used as synonyms, but congenital diseases are those diseases that are already 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 at 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 is the part of the body carrying the mutant trait. In humans, somatic mutations often lead to malignant tumors. Breast cancer is the result of somatic mutations In humans, somatic mutations often lead to 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% Due to mutations or the absence of individual genes and are inherited in full accordance with Mendel's laws Due to 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. Clinical manifestations arise as a result of the absence of certain genetic information, or the implementation of defective. Albinism
1.1 Autosomal dominant monogenic diseases The effect of the mutant gene is manifested almost always The action of the mutant gene is manifested almost always Sick boys and girls are born with the same frequency. Sick boys and girls are born with the same 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)
Hereditary connective tissue disease caused by multiple gene mutations, manifested by changes in the skeleton: tall stature with a relatively short trunk, long spider-like fingers (arachnodactyly), joint laxity, often scoliosis, kyphosis, chest deformities (fossa or keel), an arched sky. Eye lesions are also characteristic. Due to abnormalities of the cardiovascular system, the average life expectancy has been reduced to 35 years. Morphan's syndrome
The high adrenaline rush characteristic of the disease contributes not only to the development of cardiovascular complications, but also to the appearance in some individuals of a special "fortitude" and mental giftedness. Treatment is unknown. It is believed that Paganini, Andersen, Chukovsky were ill with it Arachnodactyly - lengthening of the joints
A strange tribe of people-ostriches (sapadi) in Central Africa differs 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 were highly developed on the foot, the second, third and fourth were completely absent (as if they shouldn't have been at all!). This feature is entrenched in the genes of the tribe and is inherited. Sapadi are great 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. Pincer syndrome
The mutant gene is manifested 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 can be phenotypically healthy, but are heterozygous carriers of the mutant gene.Autosomal recessive inheritance is more typical for diseases in which the function of one or several enzymes is impaired, the so-called fermentopathies
Gene damage on chromosome 12. It is accompanied by the accumulation of phenylalanine and its toxic products, which leads to severe damage to the central nervous system, which manifests itself, in particular, in the form of impaired mental development. With timely diagnosis, pathological changes can be completely avoided if, from birth to puberty, the intake of phenylalanine with food into the body is limited. Phenylketonuria The main thing is a strict diet! Late start of treatment, although it gives a certain effect, does not eliminate the previously developed irreversible changes in brain tissue
Sickle cell anemia Erythrocytes carrying hemoglobin S instead of normal hemoglobin A, under a microscope, have a characteristic sickle shape (sickle shape), for which this form of hemoglobinopathy is called sickle cell anemia. Erythrocytes carrying hemoglobin S have reduced resistance and reduced oxygen-transporting capacity S-hemoglobin A -hemoglobin
Progeria Progeria (Greek progērōs prematurely aged) is a pathological condition characterized by a complex of changes in the skin, internal organs caused by premature aging of the body Progeria (Greek progērōs prematurely aged) is a pathological condition characterized by a complex of changes in the skin, internal organs caused by premature aging of the body
I started to get old, life is so short. For many people, it is like a river - It rushes somewhere in the alluring distance, Giving either joy, then sorrow, then sorrow. Mine is like a rock with a waterfall That falls from the sky like a silver hail; That drop, which is given a second, Just to break on the stones at the bottom. But there is no envy of the mighty river That flows smoothly along the path in the sand. Their lot is one - having finished their wanderings, Find peace in the seas of compassion. Let my century not be long, I am not afraid of fate, After all, turning into steam, I will return to heaven 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 coagulation factors. Usually 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 the defective genes to her two daughters and her son Leopold, and later to her grandchildren and great-grandchildren, including the Russian Tsarevich Alexei Nikolaevich, whose mother, Tsarina Alexandra Fedorovna, was a carrier of the hemophilia gene. Queen Victoria
They arise due to a change in the number or structure of chromosomes. For each disease, a typical karyotype and phenotype is observed (for example, Down's syndrome - trisomy 21, karyotype 47). Chromosomal diseases are much more common than monogenic ones and account for 12% of all mutations. They arise as a result of changes in the number or structure of chromosomes. For each disease, a typical karyotype and phenotype is observed (for example, Down's syndrome - trisomy 21, karyotype 47). Chromosomal diseases are much more common than monogenic ones 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's syndrome (extra X in men - XXY) Syndrome of "cat's cry" (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 abnormality of the chromosome set (trisomy of 21 pairs of autosomes), the main manifestations of which are mental retardation, a peculiar appearance of the patient and congenital malformations. A transverse fold is often found in the palm of the hand. Frequency is 1 in 700 newborns.
Loss of chromosome 5 fragment. In this syndrome, there is a characteristic crying of a child, reminiscent of a cat's meow, which is caused by a change in the larynx. The frequency of the syndrome is approximately 1: Sex ratio M1: F1.3. Cat's cry syndrome web-local.rudn.ru Patau's syndrome A typical complication of pregnancy during bearing a fetus with Patau's syndrome is polyhydramnios: it occurs in almost 50% of cases. With Patau syndrome (trisomy 13), severe congenital defects are observed. web-local.rudn.ru
Diseases are caused by the polymeric nature of gene interaction or a combination of the interaction of several genes and environmental factors (multifactorial diseases). Polygenic diseases are not inherited according to Mendel's laws. To assess the 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 dislocation of the hip, schizophrenia, congenital heart defects wos-l.ru
There are 37 genes in the DNA of mitochondria, 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 fathers die). 4. Mitochondrial mutations
Risk factors Physical factors (various types of ionizing radiation, ultraviolet radiation, electromagnetic radiation) Chemical factors (insecticides, herbicides, drugs, alcohol, certain drugs and other substances) Biological factors (smallpox, rubella, chickenpox, mumps, influenza viruses , measles, hepatitis. The woman's age is over 35 years old, family marriages, the presence of genetic diseases in the family).
In the antenatal clinic: Register with the antenatal clinic as early as possible! Optimal - 6-10 weeks of pregnancy Perinatal screening of the 1st trimester - the thickness of the fetal collar space in weeks (the norm is up to 3 mm) and analysis of the level of blood hormones in weeks: ultrasound and blood levels of hCG and AFP - the risk is mathematically calculated. 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, the age of parents, the 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 Substitution therapy Removal of toxic metabolic products Influence on enzyme synthesis Exclusion of certain drugs (barbiturates, sulfonamides, etc.) Surgical treatment Today, a new method is actively developing - gene therapy. With this method, the defective genes can be replaced with “healthy” ones and the disease can be stopped by eliminating the cause (the defective gene). Gene therapy
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