Genetics & Health Past Paper PDF

## Genetics and Health ### Question 1 A father has a phenylketonuria, mother is healthy. A type of inheritance is autosomal-recessive. The probability of appearance of phenylketonuria in their children is: - 0% ### Question 2 Low growth, absence of signs of the sexual immature, wide shoulders,...

## Genetics and Health ### Question 1 A father has a phenylketonuria, mother is healthy. A type of inheritance is autosomal-recessive. The probability of appearance of phenylketonuria in their children is: - 0% ### Question 2 Low growth, absence of signs of the sexual immature, wide shoulders, short neck are marked in a girl 15 years old with normal mental development. What disease may be suspected? - Turner's syndrome ### Question 3 Choose the most exact definition of congenital diseases: - Diseases which appear with birth ### Question 4 X-Trisomy syndrome was diagnosed in a sick woman with hypoplasia of genitals and mental retardation. This disease is a consequence of: - Undivergence of chromosomes ### Question 5 Among the following choose the direction in etiology according to which disease has only one reason and its influence causes a disease obligatory: - Monocausalism ### Question 6 What from named is the example of adaptation illnesses of a human? - Hypertension disease ### Question 7 Among the named influences the increase of histohematic barriers permeability causes: - Fever ### Question 8 It is known that hemeralopia is inherited on X-linked recessive inheritance type. What is the probability of hemeralopia appearance in newborn boy when it is known that the father of pregnant woman suffers with the hemeralopia? - 50% ### Question 9 Phenocopy is a disease like: - Inherited disease ### Question 10 Delay of physical and mental development, upward slant of palpebral fissures, multiple anomalies of internal organs were revealed in a boy 8 month. Trisomy of 21 chromosomes was revealed during investigation of the karyotype. What is the most provisional diagnosis? - Down's syndrome ### Question 11 Indicate the pathogenic principle of phenylketonuria treatment: - Limitation of phenylalanine in diet ### Question 12 Indicate a term from the beginning of clinical death in which the reanimation of organism is possible and expedient: - At the latest in 5 min ### Question 13 What from the following diseases is inherited X-linked type? - Colour blindness ### Question 14 Two children were born with albinism in family which man and woman are distant relations. Specify the most likely type of inheritance. - Autosomal recessive ### Question 15 It is known that biochemical methods are widely used in diagnostics of the inherited diseases. What express method is possible in diagnose of phenylketonuria? - Test with trichloroacetic iron ### Question 16 What disease is it possible to diagnose using the investigation of amniotic fluid? - Chromosomal illnesses ### Question 17 Disorders of higher nervous activity and coordination of movements in the conditions of increased atmospheric pressure action associated to the toxic action on neurons of: - Carbon dioxide ### Question 18 Low growth, insufficient physical development, wide thyroid thorax, genital infantilism was detected during inspection of a patient. A sexual chromatin is not determined in the cells of buccal epithelium. Your conclusion: - urner's syndrome ### Question 19 Two types of cells with the same amount of the karyotype 46, XY / 47, XXY were revealed during investigation of karyotype of patient with the Kleinfelter's syndrome. Mechanism of appearance of this phenomenon is: - Mosaicism ### Question 20 A sexual chromatin was revealed in the cells of tunica mucosa of mouth during the examination of teenager with mental retardation. What method may be used for specification of the diagnosis? - Cytogenetic method ### Question 21 Color blindness was diagnosed in a boy. The color vision of parents is normal. A grandfather and great-grandfather had the same anomaly. There were not sick persons among women of this family. What is the type of inheritance of this illness? - X-linked recessive ### Question 22 Probability of phenotypic display of gene shown in percents (percentage amounts sick to the amount of genes transmitters) is named: - Penetration ### Question 23 At the action of nitrous acid there is oxidizing desaminin of nitrous bases of nucleotides, that can result in a point mutation - replacement cytosin on: - Adenine ### Question 24 Mental retardation, eunuchoidism, karyotype 47, XXY were revealed during clinical and laboratory examination of the patient. The diagnosis of what inherited illness may diagnose in the patient? - Kleinfelter's syndrome ### Question 25 It was discovered the somatic cells of three populations: normal cells, monosomy cells, thrisomy cells at analysis of karyotype of patient with the Down's illness. What mechanism underlies the basis of this phenomenon? - Mosaicism ### Question 26 Name the state of organism when pulse and breathing are absent but the metabolism is saved on a minimum level: - Clinical death ### Question 27 A father has congenital cataract, mother is healthy. The type of inheritance is autosomal-dominant. What is the probability of congenital cataract appearance in their children? - 50% ### Question 28 The probable factors of diseasedevelopment in case when the cause of illness is unknown are: - Risk factors ### Question 29 What is the basic method of pathophysiology? - Experiment ### Question 30 A teenager 15 years old addressed to the doctor with complaints of color sense disorder. His father does not differentiate colors also, his mother has normal color sense. Your conclusion about the genotype of mother: - Heterozygous by gene of color blindness ### Question 31 It is diagnosed trisomy of chromosome 13 during investigation of karyotype of newborn boy with defects "harelip" and "cleft palate", defects of the nervous and cardiovascular systems, organ of vision. Which from the following syndromes is present in a boy? - Patau syndrome ### Question 32 At the analysis of amniotic fluid was established the cells of fetus contain a two Barr's chromatin bodies. What disease is this sign typical for? - Kleinfelter's syndrome ### Question 33 Percentages of concordance among mono- and byzygous twins enumerated below diseases are: tuberculosis – 67 and 23, schizophrenia – 69 and 10, epilepsy – 56 and 10, harelip - 33 and 5, endemic goitre – 71 and 70. Proceeding from this information a genotype does not play role in origin - Endemic goitre ### Question 34 What does take place in the human organism in case of depressurization of airplane at the height 12,000 m? - Gas embolism ### Question 35 A child was born with numerous defects of external and internal organs - heart, kidney, digestive system in a maternity hospital. Down's syndrome was diagnosed. What method of investigation may confirm this diagnosis? - Cytogenetic method ### Question 36 A father has congenital cataract, mother is healthy. The type of inheritance is autosomal-dominant. What is the probability of congenital cataract appearance in their children? - 50% ### Question 37 484. In a patient with hepatic jaundice a disorder of bilirubin conjugation with glucuronic acid was revealed due to deficiency of UDP-glucuroniltransferase, which catalysed this process. What hereditary disease is characterized by that disorder for? - Crigler-Najjar syndrome ### Question 38 A father has a phenylketonuria, mother is healthy. A type of inheritance is autosomal-recessive. The probability of appearance of phenylketonuria in their children is: - 0% ### Question 39 41. In a 11 month old child the delay of growth, anomalies of development (tower- skull, Mongolian appearance), jaundiced of skin are observed. Blood test: erythrocytes - 3.8-1012/l, Hb – 103 g/l, color index - 0.89, there are target erythrocytes. What illness has this child? - Thalassemia ### Question 40 A sexual chromatin was revealed in the cells of tunica mucosa of mouth during the examination of teenager with mental retardation. What method may be used for specification of the diagnosis? - Cytogenetic method ### Question 41 83. In a sportsman-alpinist before training collection in mountains maintenance of red corpuscles in blood was 4.5.1012/l. How will change their amount at height 2500 m above level sea? - Will be absolute erythrocytosis ### Question 42 A man suffers with insuline dependent diabetes mellitus and his wife is healthy. What is the probability of appearance of insuline dependent diabetes mellitus in the child of these married couple? - More than in population ### Question 43 A child was born with numerous defects of external and internal organs - heart, kidney, digestive system in a maternity hospital. Down's syndrome was diagnosed. What method of investigation may confirm this diagnosis? - Biochemical method ### Question 44 742. For a sick woman 49 years old, that long time was in the chamber of hyperbarical oxygenation under pressure of O2 in 3 atm., there were disorders of motions in extremities, pain in the area of heart from irradiation in a left arm. What is the reason of nervous break-downs and of the increase of tone of coronal vessels in this case? - Action of products of ### Question 45 A man suffers with hemophilia. Him wife and her parents are healthy in relation to hemophilia. Determine the risk of hemophilia appearance in boy in this family. - All boys will be healthy ### Question 46 What develops with a sharp transition from the area of ??high atmospheric pressure to the area of ??normal or lowered atmospheric pressure? - explosive decompression syndrome ### Question 47 What figure indicates the karyotype of a girl with Patau syndrome in fig. - five ### Question 48 What letter indicates the karyotype of a patient with X-trisomy in fig. - D ### Question 49 How does the partial pressure of O2 and CO2 change when climbing to a height? - 02 and CO2 reduced ### Question 50 What letter designs a karyotype of the patient with Turner's syndrome in fig. - C ### Question 51 What letter indicates the karyotype of a patient with Kleinfelter syndrome in fig. - A ### Question 52 What letter indicates the karyotype of a patient with Down syndrome in fig. - A\ ### Question 53 Name the sequence of terminal states - preagony, agony, clinical death ### Question 54 Analyze the pedigree 2 in Fig. and name the type of inheritance of the disease. - Autosomal recessive ### Question 55 What is the figure for the karyotype of a man with Down syndrome in fig. - one