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TESTS FOR SELF
1. That studies the genetics?
a. laws of heredity and variation in organisms *
b. patterns of evolution
in. patterns of cell development
, the pathophysiological processes of the body
on the physiology of the internal organs
2. What is the basic unit of heredity?
a. gene *
b. chromosome
in. genome
, the chromatin
on cell
3. What is the name of one pair of chromosomes?
a. homologous *
b. heterozygous
in. haploid
, the diploid
d golandricheskie
4. What is inherent in the cells diploid number of chromosomes?
a. zygote, somatic cells *
b. gametes, neurons
in. spermatozoa, myocytes
was the eggs, sperm
on germ cells, somatic cells
5. What is inherent in the cells haploid set of chromosomes?
a. gametes *
b. somatic cells
in. zygote
, the autosomes
on neurons
6. What is inbreeding?
a. inbreed *
b. free interbreeding
in. marriage between relatives of I degree of kinship
, the probability of gene expression
d factor causing mutations
7. What is syndactyly?
a. fusion of the fingers *
b. fingers of the same length
in. chirodactyly
, the "spider" fingers
on short and thick fingers
8. What is brachydactyly?
a. short fingers or phalanges of the hands and feet *
b. glued fingers
in. fingers of the same length
, the curved fingers
etc. "spidery" fingers
9. What is acromacria?
a. "Spidery" fingers *
b. short limbs
in. glued fingers
, the fingers of the same length
on curved fingers
10. Who is the proband?
a. individual, that began genealogy research *
b. sick people;
in. children of a married couple
, the carrier;
on the offspring of consanguineous marriage
11. Who are the siblings?
a. children of a married couple (brothers and sisters) *
b. twins
in. sick people
, the media
on individuals, which started the study pedigree
12. What is the name of the disease and malformations, phenotypically similar to genetic
diseases?
a. polygenic disease
b. genomic disease
in. phenocopies *
g genokopii
on monogenic diseases
13. What disease refers to disorders of connective tissue
exchange?
a. glycogenoses
b. hemophilia
in. cystic fibrosis
, the syndrome Tay-Sachs disease
on Marfan syndrome *
14. On what type of hemophilia A is transmitted?
a. autosomal dominant
b. not subject to the laws of Mendel
in. X-linked recessive *
, the X-linked dominant manner
15. What disease is associated with lipid disorders?
a. mucopolysaccharidoses
b. cystic fibrosis
in. Gaucher disease *
Marfan's syndrome, the
Gierke's disease etc.
16. On what type of Marfan syndrome is inherited?
a. autosomal dominant *
b. X-linked dominant manner
in. X-linked recessive
, the polygenic-additive
on autosomal recessive
17. What is the exchange of breaks in the syndrome of Pompe?
a. amino acid
b. lipidic
in. pigmentary
g carbohydrate *
on connective
18. Which syndrome is associated with metabolic disorders of carbohydrate?
a. PKU
b. Niemann-Pick disease
in. Sachs' disease
city of gout
Gierke's disease etc. *
19. What is characteristic of Marfan syndrome?
a. brachydactyly
b. palpebral
in. acromacria *
ptosis, the
on idiocy
20. What kind of syndrome to differentiate Marfan syndrome?
a. Huntington's chorea
b. tubulopathy
in. Gaucher disease
homocystinuria, the *
d glycogenoses
21. Which of the disease is transmitted as an autosomal recessive trait?
a. cystic fibrosis *
b. phosphate diabetes
in. Marfan syndrome
Duchenne myopathy, the
Bruton's disease etc.
22. What is the method used in the diagnosis of PKU?
a. determination of chloride in the sweat
b. Sample Selivanov
in. Sample nechiporenko
Felling, the sample *
on trial Sulkovicha
23. Which group of hereditary diseases is cystic fibrosis?
a. polygenic disease
b. phenocopies
in. monogenic diseases *
, the chromosomal disease
d teratogenic disease
24. What method is used in the diagnosis of cystic fibrosis?
a. definition pigments in urine
b. Sample Sulkovicha
in. determination of chloride in the sweat *
Selivanov, the sample
on the definition of sex chromatin
25. What is characteristic of PKU?
a. congenital malformations
b. coagulation failure
in. cataract
, the "mouse" smell of urine *
Mongoloid eye shape, etc.
26. Which group of hereditary diseases include Gaucher's disease?
a. chromosomal
b. genomic
in. polygenic
g for carbohydrate metabolism disorders
d Lipidoses *
27. What is typical for galactosemia?
a. congenital malformations
b. atelocardia
in. depigmentation of the skin
darkening of the urine, the
on lactose intolerance *
28. What is a group of diseases related to MPS?
a. Tay-Sachs disease, Gaucher's disease, Niemann-Pick
b. galactosemia, glycogenoses
in. PKU, cystinosis, leytsinoz
hyperlipidemia, the syndrome Gierke
D. Gunther's disease, Hurler, Sanfilippo *
29. What is the basis of monogenic diseases?
a. the impact of environmental factors
b. mutations in multiple genes
in. mutation of a single gene *
, the mutations of multiple genes and environmental hazards
on all factors
30. Any defect in the enzyme seen with galactosemia?
a. tyrosinase
b. phenylalanine hydroxylase
in. GA-I-bop *
, the lipase
on hexokinase
31. What treatment is recommended for PKU?
a. table number 5
b. carbohydrate restriction
in. dietary salt restriction
* g protein hydrolysates
d antibiotics, hormones, vitamins
32. What disease is not a glycogen storage disease?
a. Niemann-Pick disease *
b. Gierke's disease
in. Andersen's disease
city of Pompe disease
Cory on disease
33. What is a multifactorial disease?
a. diseases related to environmental hazards
b. transmitted diseases, according to the laws of Mendel
in. chromosomal and genomic disease
, the disease associated with mutation 3 gene
on the disease with genetic predisposition *
34. Which disease is characterized by the following triad of symptoms: the defeat of the
skeleton, dislocation, subluxation of the lens, aortic aneurysm?
a. glycogenoses
b. mucopolysaccharidoses
in. atelocardia
Gunther, the syndrome
on Marfan syndrome *
35. What disease is not monogenic?
a. tubulopathy
b. cystinosis
in. chondrodystrophy
monosomy, the syndrome *
on color blindness
36. What disease refers to the MPS?
a. Hurler syndrome *
b. syndrome De Toni-Debre-Fanconi
in. cystic fibrosis
Lejeune, the syndrome
Gierke syndrome etc.
37. What treatment is indicated in cystic fibrosis?
a. Protein hydrolysates
b. cytostatics
in. steroids
was a mixture of "Berlafen"
d fermentoterapiya *
38. What disease is transmitted as an autosomal recessive trait?
a. congenital acromicria
b. glycogenoses *
in. Lejeune syndrome
, the color-blindness
on Marfan syndrome
39. What is typical for galactosemia?
a. depigmentation of the skin and hair
b. manifestation of the disease after 20 years
in. jaundice, hepatomegaly *
subluxation of the lens, the
on mitral
40. What is necessary to differentiate the disease galactosemia?
a. Turner's syndrome
b. hemophilia
in. hemolytic jaundice *
, the PKU
Gaucher's syndrome etc.
41. Under what conditions apply method for the determination of chloride in the sweat?
a. phosphate diabetes
b. homocystinuria
in. PKU
, the cystic fibrosis *
on MPS
42. For any hereditary disease characterized by loss of exocrine glands?
a. galactosemia
b. cystic fibrosis *
in. mucopolysaccharidosis
g sfingolipidozy
43. For what fermentopathy characteristic joint damage after 40 years?
a. cystinosis
b. tubulopathy
in. homogentisuria *
, the hemophilia
on homocystinuria
44. The boy 13 years diagnosed mitral valve prolapse, lens subluxation, kyphosis, intelligence is
not disrupted. Predpollozhitelny diagnosis?
a. Klinefelter syndrome
b. atelocardia
in. homocystinuria
, the Marfan syndrome *
d glycogenoses
45. To which group of hereditary diseases using specific biochemical tests?
a. chromosomal disease
b. sex chromosome abnormalities
in. fermentopathy *
, the multiple malformations
d immunodeficiency
46. What disease is associated with a defect of tyrosinase?
a. galactosemia
b. PKU
in. Marfan syndrome
g glycogenoses
on albinism *
47. At what type of inheritance daughter sick father become ill, and sons - healthy?
a. autosomal dominant
b. X-linked dominant *
in. autosomal recessive
, the polygenic-additive
on an X-linked recessive
48. In the pedigree of man is sick, parents are healthy. The disease is observed in male maternal
line. What type of inheritance?
a. autosomal dominant
b. X-linked recessive
in. autosomal recessive
, the X-linked dominant
on all of the answers are correct
49. What is the incidence of PKU?
a. 1:300
b. 1:1000
in. 1:10000 *
was 1:50,000
on 1:2000
50. The family had a child with PKU. Parents are phenotypically healthy. Who gave the gene
PKU child?
a. Both *
b. father
in. mother
, the grandfather of the father
grandmother on his mother's side