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THE MINISTRY OF HEALTH OF THE REPUBLIC OF UZBEKISTAN TASHKENT MEDICAL ACADEMY «CONFIRM» pro-rector on educational work Professor ___________ Teshaev O.R. «____» ___________ 2012 Department: INFECTIOUS DISEASE AND PEDIATRICS Subject: MEDICAL GENETICS THE TECHNOLOGY OF TRAINING on a practical lesson on the topic: Diseases of lipid exchange: sfingolipidosis (Gaucher's disease, Nieman Peak, Tay-Sachs, serum lipid level. Connective tissue diseases ( disease Marfan, etc). The tactics of the GP Tashkent Compilers: Khalmatova B.T. - head of the department, doctor of medical Sciences Agzamxodjaeva N.S.- associate Professor, candidate of medical Sciences. Fayzieva Z.K. Candidate of medical Sciences senior lecturer The technology of training approved by: At the meeting of the Department of Protocol № from «___ » ____________ 2012 Technology study Subject: Gene diseases: Diseases of the amino acid metabolism: PKU, cystinosis, tyrosinosis, homogentisuria and others. Disease of carbohydrate metabolism galactosemia, glycogenoses, fructosemia. Etiology, pathogenesis, clinic, diagnostics, principles of treatment and prevention. The tactics of the GP. 1. The venue of the sessions - Department of infectious diseases, Pediatrics, hospital 2. The duration of the study of the topic The number of hours - 6.0 3. classes: to Acquaint students with etiopathogenesis and classification of monogenic diseases violation of amino acid and carbohydrate metabolism. To clarify the mechanisms of mutations of genes in the gene diseases. Teach the methods of diagnostics of genetic diseases, define indications, methods of treatment and prevention 4. The pedagogical objectives: - To consider the features of the flow of genetic diseases. -Discuss the importance of external factors and gene heredity diseases -classification of genetic diseases. - the testimony to the survey. - to acquaint with modern prevention of genetic diseases 5. The results of educational activity The student should know: • Etiopathogenesis and classification of genetic diseases. • Types of inheritance and criteria, typical for monogenic the disease. • Etiopathogenesis and clinic of monogenic diseases violation of amino acid metabolism • Etiopathogenesis and clinic of monogenic diseases in violation of carbohydrate metabolism • The principles of treatment and prevention of genetic diseases • Indications for prenatal methods of diagnostics of genetic diseases The student should be able to: • To correctly collect complaints, anamnesis of the disease, history of life, information about the closest relatives. • Draw up the genealogy of the gene diseases • Objectively examine the patient and relatives. • Determine the manifestations of monogenic diseases. • Draw up a plan of examination and treatment. • Define the prognosis for other members of the family. 4. Motivation Monogenic diseases occupy a large section of clinical genetics and are very and topical problem of medical genetics. Given that a distinctive feature of our region are frequent family marriages and in connection with this wide spread of genetic diseases. The task of the GP is in the prevention of this phenomenon, as the prevention of genetic disease. 5.Межпредметные and inside the case connection The teaching of this topic is based on the knowledge of the students of the fundamentals of anatomy, histology, normal and pathological physiology, biology, immunology, Allergology, propedeutics of children's diseases. 6. Methods and techniques of training The method of discussion; the graphic organizer - case technology 7. Learning tools Training manuals, training materials, slides, video and audio recordings, history of the disease 8. Form of training Individual work, group work, collective 9. Conditions of training The audience chamber 10. Monitoring and evaluation Oral control: control issues, the implementation of training tasks in groups, the implementation of practical skills, the CDs 13. The workshop sessions 13.1. The theoretical part of the Under the genetic disease is commonly understood hereditary diseases, caused by the mutation of a single gene (in structure of DNA are different, changes in the form of losses, doubling, translocation, etc.). The number of genes in human cells reaches hundreds of thousands. auto production replication of genes, preceding each cell division, provides the transfer of the daughter cells the full amount of hereditary information. However, in some cases with the «mistakes» of auto reproduction or under the influence of mutagenic factors occur gene mutations. At the molecular level, they are expressed in the substitution of one nucleotide on the site (the site) gene. The mutant gene is changeable information and, therefore, programmable their protein has a different primary structure. PHENYLKETONURIA (PKU) Phenyl pyruvic mental retardation was opened in 1934. Felling. This is an inherited disease of amino acid metabolism caused by mutations in the gene phenylalanine, liver enzyme, carrying out the reaction of the hydroxylation phenylalanine, i.e. its transformation into a tyrosine. Mutations within this large-scale gene of the human genome affect different areas and in different ways damage the function of the enzyme. The frequency of the prevalence of the disease varies from 1: 7000 up to 1: 10000 of the population and more. Disease is common in populations where the distributed kinship marriage. Heterozygotes are found in populations with a frequency of 1: 50 to 1: 1000. The disease is transmitted as an autosomal-recessive type. Phenylalanine is an essential amino acid for human growth and development and is found in all of protein foods. In the basis of the pathogenesis of the disease is lack liver enzyme - phenylalanine, which leads to the metabolism of phenylalanine and increased by more than 10 times the concentration of toxic products of metabolism - of phenylacetic, and acids, which have a neurotoxic effect. The increase of concentration of phenylalanine restricts the transport of tyrosine and tryptophan through the blood-brain barrier. The accumulation of phenylalanine in the brain of a patient also inhibits the activity of enzymes involved in the synthesis of that protect the brain from demyelination. The disease usually manifests itself in the first months after the birth of a delay of mental and motor development. The clinical manifestations are varied. Often these patients are under the diagnosis of infantile cerebral palsy, mental retardation. Early manifestations of the disease are regurgitation, vomiting, diarrhea. Neurological symptoms appear later in the form of a sleep disturbance, convulsive syndrome, mental retardation. Develops the muscle of Hypo or hypertension. Motor development detained. Children begin to sit and to walk with delay, a specific smell of sweat and urine - "rat smell". By the skin marked decrease or absence of pigmentation, dermatitis, eczema, photosensitivity. The hair and the irises of the eyes also lose their pigmentation. Violations on the part of craniocerebral nerves manifest strabismus, nystagmus, violation of the coordination of movement. In a later age appears characteristic posture of the patient - "pose a tailor, a peculiar gait. Patients are widely spreading her legs, bent at the knees and hip joints, her shoulders and head. When walking, make small steps and sway CYSTINOSIS (FANCONI SYNDROME) Hereditary disease associated with the violation of the exchange of cystine due to the enzymatic block (biochemical mechanism has not fully been clarified). In connection with poor solubility of cystine in biological fluids by excessive accumulation of him in the cells, he easily falls in the sediment in the form of crystals, causing various functional disorders in the activity of internal organs, mainly kidneys. The frequency is 1: 600 000 of the population. The disease is inherited in an autosomal recessive type. . The disease manifests itself in the late first or early in the second half of life. Patients have a reduced appetite, there are constant thirst, constipation, vomiting after eating and drinking or not associated with feeding. Reduced child's resistance to the infections. Develops the defeat of the eye in the form of conjunctivitis, converging strabismus. In the cornea and conjunctiva are dystrophic changes of the deposits in them of cystine crystals. Is expressed sensitivity to light. Later in patients with enlarged liver and spleen, appears frequent urination with impaired renal function. One of the typical symptoms of the disease is progressive delay in growth up to severe forms of nanizm. Then join rickets similar changes of the bone system. However, many children die before the appearance of deployed rickets similar changes from hyperthermia, coma, collapse. The portion of the children of changes of the bone system, on the contrary, is the Central feature of the disease. Children lag behind in growth. They have observed bending of tubular bones, nape hillocks, deformation of the chest, spine, muscle hypotonia, “the rosary” at the edges “ricket bracelets” and etc. Clinically and radiologically these phenomena are similar manifestations of rickets, associated with a deficiency of vitamin D. АЛКАПТОНУРИЯ The disease has been known for more than 100 years. With the urine of patients allocated acid, absent in norm. In the liver and kidneys of patients there is no oxidase enzyme homogentisic acid, which leads to its accumulation and increased allocation in the urine. The incidence of the disease - 1:1000000 population. The disease is inherited in an autosomal recessive way. Pathogenetic mechanism of the disease are not fully understood. The disease is clinically manifested 3 symptoms: the darkening of the urine, pigmentation of cartilage and connective tissue, arthropathy. Urine, which has at the time of an emiction normal color, for 12 to 24 hours in the air it gets dark. In connection with this disease is detected very late, in spite of the fact that there exists from birth. The infant colored urine is found in the diaper. It is more often from the dark pink to red colour. As a child, the symptom is the only manifestation of the disease. Gray-blue pigmentation (ochronosis) appears after 20-30 years of age. The disease with a violation of the carbohydrate metabolism Among them there is a disease caused by mutations in the genes encoding enzymes that are involved in the decomposition of mono - and disaccharides (galactosemia, fructosemia, etc.). these carbohydrates are the body with food. Glycogenoses is a group of diseases caused by the lack or inadequacy of one of the enzymes catalyzing the destruction of the deposited glycogen. Currently well-studied 6 types of glycogenosis (Гирке, Pump, Measles, Andersen, Mac-Ардля, Герса). GALACTOSEMIA Galactosemia belongs to a group of anomalies in the metabolism of carbohydrates, which are characterized by lesions of the Central nervous system, muscular system, violations of the liver, abnormality of red blood cells, gipoglikemicakie condition. A typical galactosaemia is inherited in an autosomal recessively. The incidence of the disease is approximately 1: 30 000 newborns, but according to different authors, it ranges from 1:8000 to 1: 187000 of the population. In the basis of the primary biochemical defect in galactosaemia is deficiency of the enzyme galactose-1-фосфатуридилтрансферазы (HA-1FT), with the result that in the tissues of the body accumulates excess galactose-1-phosphate and other products of incomplete decomposition of lactose, causing clinical manifestations of galactosaemia. Besides the classical type galactosaemia there are 2 options: a form of Duarte, with 50% of the activity of the enzyme and the Negro type, in which the activity of the enzyme reduced only in some cells (red blood cells, fibroblasts). The CLINIC can be of varying degrees of severity. The most mild cases are found in families where there are patients galactosemia. Such children early to refuse from the chest and do not tolerate milk. In the most severe clinical manifestations are revealed in the first days after birth. The mass of the body of the children at birth, as a rule, is large (more than 4 kg). In patients after breastfeeding occurs abundant and persistent vomiting, diarrhea, weight loss, develop jaundice, is growing hepatomegaly, there are bleeding and haemorrhage in the skin. Frequent hypoglycemia, convulsions, in the future appears cataract, signs of cirrhosis of the liver and the lag in the neuro-mental and physical development. The DIAGNOSIS. The presence of a large number of phenocopies and complexity of biochemical methods of diagnostics galactosaemia explain the fact that the disease is not always detected in a timely manner. Often children with galactosemia come to the clinic with a diagnosis of sepsis, biliary cirrhosis of the liver, acute disorders of the digestive system, the prolonged jaundice of newborn etc. A number of diseases of the newborn has the similarity of the clinical manifestations with galactosemia; hemolytic disease of the newborn, congenital hepatitis, biliary atresia, cytomegalic inclusion disease, congenital toxoplasmosis, hereditary hyperbilirubinemia , etc. The need for differential diagnosis may occur with prolonged jaundice premature and newborn. Establishing an accurate diagnosis galactosaemia requires complex diagnostic methods. Detection of galactose in the urine of a newborn child serves as a basis for its comprehensive survey of the galactosemia. The most reliable diagnostic methods are the determination of the concentration of galactose in the blood with the help of chromatography on paper, the direct determination of enzyme activity galactose-1 - phosphate - (HA-1-FT) in erythrocytes and definition of galactose in the urine. In addition, the diagnosis can help correctly assembled family history. TREATMENT. From the first days of life the child should be transferred to the non milk diet. As a substitute for milk, you can use the mixtures, prepared on the almond and soy milk. GLYCOGENOSES Under this common name unites a group of diseases, for which is peculiar to the accumulation of glycogen in the organs and tissues, associated with the violation of the activity of one of the enzymes involved in the metabolism of glycogen. The disease is inherited in an autosomal recessive way. The frequency of glycogenosis of all types is 1: 40000 population. The most well described, 6 types of glycogenosis, although there is much more. The CLINIC. Common clinical symptoms are: the onset of disease in childhood, gipoglikemii symptoms (vomiting, convulsions, loss of consciousness, coma). Glycogen is the most intensively accumulated in those bodies in which he is synthesized, i.e. in the liver, kidneys and muscles. Depending on which organ is most involved in the pathological process, there are 3 basic forms of the disease: 1.Печеночная 2.Мышечная 3.Генерализованная Hepatic form Signs of the disease appear usually in the first year of life, although the development of the child in this period is proceeding normally or somewhat slows down. Starting from 8-9 months of life 1 time in 2 months, or are more frequent bouts of hypoglycemia (loss of consciousness, and clinical convulsions of the limbs). Attacks begin before a meal or early in the morning, their occurrence can prevent the intake of sweet water. The appearance of the patients: small size, big belly, disproportionately thin limbs, « doll face ». The liver is enlarged. The most difficult disease proceeds at the age of 4-5 years. Disease harden the course of main pathological process. With age, the condition of patients can be improved, which can be explained by development of compensatory mechanisms for sharing. The intellect as a rule is not violated. Muscular form The main symptoms of this form of the disease occurs with 7 - 10 years. Patients become more sedentary, quickly tire during exercise. In the future, muscle weakness progresses. There is pain in the intensively working muscles after lengthy physical exercises, there is tachycardia, shortness of breath. These symptoms mostly occur to 25-35 years. The appearance of the patients are usually does not change. Borders of heart are typically expanding. By the liver and kidneys expressed changes do not happen. Prognosis of the disease mostly favorable, although known deaths in the age of 25-30 years. Generalized form This form of glycogenosis is characterized by the fact that in almost all organs and tissues of the patient are accumulated a significant amount of glycogen. The clinical picture of this form does not look like the picture of the liver and muscle forms. To this form are biochemical types of glycogenosis III and IV types (disease Measles and Andersen). Biochemical types of glycogenosis: 1.Болезнь Gierke (type I) - deficiency of the enzyme glucose-6phosphatase. 2.Болезнь Pump (type II) - deficiency of the enzyme sour glucosidase. 3.Болезнь Measles (W type) - enzyme deficit of 1.6-glucosidase. 4.Болезнь Andersen (IV type) - deficit branching enzyme. 5.Болезнь Mac-Ардля (Y-type) - deficiency of the enzyme muscle phosphorylase. 6.Болезнь Hers (YI type) - deficiency of the enzyme phosphorylase the liver. The DISEASE ГИРКЕ (type I) The clinical picture of the disease caused mainly by the lack of specific activity of the enzyme glucose-6-phosphatase in the liver and intestinal mucosa, and in some cases also in the kidneys. The clinical picture of the disease accounts for most disorders of the metabolism of glycogen in the liver. The clinical picture of the disease is very similar to the liver form of the disease, which has been described above. In the neonatal period cardinal symptoms are hypoglycemic seizures and hepatomegaly. Delay of growth begins to be observed with the 1-th year of a life. Is characterized by the appearance of the patients: the big head, «doll face», a short neck, a big belly. Characteristic of this type of glycogenosis is the fact that the children in the age of 5-7 years there are hemorrhagic rash, as well as frequent nosebleeds. In 10% of cases there are xanthomatosis. The disease is inherited in an autosomal recessive type. The DISEASE PUMP (type II) The disease is caused by a lack of the enzyme, acid alpha - glukosidase or gamma - amylase in the liver and muscles, which leads to destructive changes of tissues and, in the first place, intensively working muscles, such as the heart muscles. The disease usually manifests with the first year of life in the form of symptom-complex heart failure. Shortly after the birth of developing anxiety of the child, there is increasing cyanosis, respiratory. The survey revealed a « globular » heart, hepatomegaly, moderate hypertrophy of muscle, macroglossia. Unlike glycogenosis type I does not have hypoglycaemia, metabolic acidosis. Sick children are killed on the 1 year of life. In the mild form of the disease, Pump there is no concentration of alphaglucosidase only in the muscles. In these cases, the disease usually manifests itself in a later age and the clinical picture is similar to myopathy. The prognosis for this form is different, is possible a lethal outcome. TREATMENT glycogenosis insufficiently developed. The use of adrenaline and hydrocortisone, capable in the rate of increase of sugar in the blood due to the disintegration of glycogen was ineffective. Some authors it is recommended to use glukagona and small doses of тиреоидина. Of great importance paid to the diet, which lies in the increase in the diet of patients carbohydrate diet and the rise in food intake. FRUCTOSEMIA The cause of the disease is a deficiency of the enzyme fructose - I - monoфосфатальдолазы in the liver, the kidneys, the mucous, and also decrease activity of fructose-1,6-дифосфатальдолазы. Changing one enzyme affects the other. Deficit of these enzymes leads to the accumulation in the blood and tissues of fructose and fructose-I-phosphate, having toxic effects and the symptoms of the disease. The most severe pathomorphological changes occur in the liver cirrhosis, steatosis, necrosis of the cells. The incidence of the disease - 1:130000 population. The disease is inherited in an autosomal recessive type. The CLINIC. The disease manifests itself in a period when the infants given fruit juices, sugar or in early transition of children in mixed or artificial feeding. The children are persistent anorexia, vomiting, hypotrophy, hepatomegaly and jaundice, which are marked with a severe form of the disease. In benign form in early childhood are observed only gastro-intestinal disturbances, and difficulty feeding. Children turning away from products containing glucose. With the age of the patients begin to be easier to carry small quantities of products containing fructose. With the increasing number of fructose in the diet of the patients ' conditions are deteriorating because of hypoglycemia and гиперфруктоземии. USING THE METHOD OF «DISCUSSION» The method of discussion is recommended as a multifunctional pedagogical method studies, covering a large content and complex theoretical material. In the discussion it is necessary to observe a number of rules: 1) the discussion is aimed at the solution of the problem, but not the conflict; 2) do not speak for a long time, observe the rules and regulations; 3) go up only on the topic; 4) correctly understand the position of the opponent, do not misrepresent it. 5) know how to listen carefully opponent to the end; 6) don't let output полемическому dream. The enemy in the discussion is not opposed in life. You need to have the readiness to recognize their error. 7) if you do not agree with an opponent, not only criticize his position, but also offer another solution; Methodical instructions to the discussion: 1. Students are warned in advance about the discussions. Is called a common theme. 2. Shall be appointed by several speakers, who are in a specific area of themes, not more than 15 min. (3-4 fragment). 3. Selected opponents, which are prepared in parallel on the same topics for the additions, critical evaluation. 4. All students prepare questions, including казусные, rapporteurs and opponents. 5. The discussion is held on the above-stated rules. Topics for discussion: 1. The role of external factors and heredity in etiopathogenesisе of hereditary diseases. 2. The relevance of genetic diseases in the structure of infant morbidity and mortality. 3. Prediction of gene-disease with a violation of the exchange of amino acids and carbohydrates in the offspring and сибсов patients. 4. The defeat of organs and systems by genetic disease with a violation of the exchange of amino acids and carbohydrates . 5. Indications for prenatal diagnosis in genetic diseases in children The analytical part (on this topic was established case) 13.3. The practical part of the 14. Forms of the control of knowledge, skills and abilities - oral - the decision of situational tasks - demonstration of practical skills - Independent work of a student 15. Criteria for the evaluation of the current control № Performance (%) evaluation The level of student's and scores knowledge 1 96-100 Depending on the situation, can make the right decision and concludes. In preparation for practical use of additional literature (as in their native language, and English) Independently examines the essence of the problems of gene disease with a violation of amino acid metabolism. Correctly solves situational problems for genetic diseases, and (PKU, tyrosinosis, Excellent cystinosis, galactosemia, «5» glycogenoses), Shows high activity, creative approach in the conduct of interactive games Correctly solves situational tasks with full justification answer During the discussion of the CDs actively asking questions, making additions The practical skill performs confident, understands the essence 2 91-95 3 86-90 In preparation for practical use of additional literature (as in their native language, and English) Independently examines the essence of the problem carditis. Independently can examine the patient and correctly diagnose (carditis), appoints the plan of the treatment and prevention of carditis. Shows high activity, creative approach in the conduct of interactive games Correctly solves situational tasks with full justification of the answer. During the discussion of the CDs actively asking questions, making additions. The practical skill performs confident, understands the essence Independently examines the essence of the problems of gene disease with a violation of amino acid metabolism. Correctly solves situational problems for genetic diseases, and (PKU, tyrosinosis, cystinosis, galactosemia, glycogenoses), Shows high activity, creative approach in the conduct of interactive games. Correctly solves situational tasks, justifies the treatment, the plan for prevention activities. Knows AFIS SS 4 76-80 Good «4» system, says confidently. Has the exact representations on the etiology, pathogenesis, clinic can carry out differential diagnosis, prescribe treatment, may make prevention carditis. The practical skill performs confident, understands the essence Right collects medical history, examines a patient, puts the preliminary diagnosis. Can interpret the data of laboratory research. Actively participates in the discussion of the CDs. Shows high activity in the conduct of interactive games. Correctly solves situational tasks, but may not assign a specific treatment, confuses dosages of drugs. Independently examines the essence of the problems of gene disease with a violation of amino acid metabolism. Correctly solves situational problems for genetic diseases, and (PKU, tyrosinosis, cystinosis, galactosemia, glycogenoses),, Has the exact representations on the etiology, pathogenesis, clinic can carry out differential diagnosis, prescribe the treatment, but may not conduct prevention of the disease. The practical skill performs 6 71-75 7 66-70 the steps of Right collects medical history, examines a patient, puts the preliminary diagnosis. Can interpret the data laboratory of additional study. Actively participates in the discussion of the CDs. Correctly solves situational tasks, knows how to put the clinical diagnosis on the classification, but may not assign the plan of treatment and prevention activities. Knows AFIS SS system, says confidently. Independently examines the essence of the problems of gene disease with a violation of amino acid metabolism. Correctly solves situational problems for genetic diseases, and (PKU, tyrosinosis, cystinosis, galactosemia, glycogenoses), Has the exact representations on the etiology, pathogenesis, clinic and conduct differential diagnosis, but may not assign the treatment The practical skill performs, but confuses the steps. Right collects medical history, examines a patient, puts the preliminary diagnosis. Can interpret the data of laboratory research. Actively participates in the discussion of the CDs. Correctly solves situational 8 61-65 9 55-60 problems for genetic diseases, and (PKU, tyrosinosis, cystinosis, galactosemia, glycogenoses), Knows AFIS SS system, says Satisfactorily confidently «3» Has the exact representations on the etiology, pathogenesis, clinic, but may not conduct differential diagnosis and prescribe treatment. Right collects medical history, examines a patient with carditis, but cannot estimate the severity of the condition. May partially interpret the data of laboratory research. Actively participates in the discussion of the CDs. Making mistakes when solving situational problems for genetic diseases, and (PKU, tyrosinosis, cystinosis, galactosemia, glycogenoses), (can't expose the diagnosis on the classification) Knows clinic carditis, tells not confident Has the exact representations on the etiology carditis, but cannot associate the clinic with pathogenesis History is not focused inspection is not on the chart. Can't interpret the data laboratory - studies. Passive during the discussion of the CDs Has a General idea of the 10 11 № 1 2 3 54 -30 20-30 problems of gene disease with a violation of amino acid metabolism. tells not confident Confuses the AFIS SS system Alone cannot interrogate and examine a sick child. Can't interpret the data of laboratory research. Does not participate in the discussion of the CDs Unsatisfactory Has no exact representation of «2» the problems of gene disease with a violation of amino acid metabolism. 't know Anatomic physiological features of the cardiovascular system Unsatisfact The presence of a student in ory class, in proper form, a has a «2» notebook, a phonendoscope 16. Technological map classes Stages Forms of classes Introductory word of the teacher (announcement of the topic of practical classes, aims, learning outcomes, peculiarities of conducting the studies, indicators and assessment criteria) The discussion of topics that The survey, are classes, assessment of the explanation source of knowledge of students with the use of new pedagogical technologies Summing up of the discussion The duration, in minutes 5 30 5 4 5 6 7 Curatio patients, on the topic of practical skills Hearing and discussion of independent work of students Clarification of the degree of achievement of the exercise, on the basis of the developed theoretical knowledge and according to the results of the development of practical skills Conclusion teaching this lesson. The estimation of knowledge of students on a 100 point system and its announcement. Giving the job to the next class 100 30 Oral questioning, situational tasks, discussion 45 Information. Questions for selftraining 5 Test questions: 1. What diseases are related to monogenic diseases? 2. List the diseases proceeding with a violation of amino acid metabolism? 3. List the diseases proceeding with a violation of the carbohydrate metabolism? 4. How are inherited genetic disease? 5. What are the features of the course are typical for monogenic diseases? 6. What are the systems and organs of the more frequently affected? 7. What methods are used for diagnostics of genetic diseases? 8. How can we help if you suspect the PKU? 9. Who do you have to send in the screening center perinatal diagnostics? 10. What measures of prevention recommend? Recommended literature: 1. N.A. Bochkov, A.F. Zakharov, V. I.. Ivanov, «Medical genetics», M 2004. 2. K.N.. Нишонбоев, FA - Hamrayev, O.E. - Eshonkulov «Тиббиет генетикаси», Tashkent, 2000. 3. N.A. Bochkov, «Clinical genetics», M - 1997. 4. S.I. Kozlov et al., «Hereditary syndromes and medico-genetic Konсультирование», M - 1987. 5. RM. Kohn, KS. His mouth. «Early diagnosis of metabolic diseases», M 19971. 6. V.N. Gorbunova, V.S. Baranov, «Introduction to molecular diagnostics and gene therapy of hereditary diseases», Saint-Petersburg, 1997. 7. Sharapova M.KH., Nizomiddinov is И.Н. and others. Моноген VA chromosomes diseases . TMA 2007.