Define the inversion, as the structural reorganization in chromosomes.

1) Moving of separate sites of chromosomes in to other chromosome.

2) The result of two breaks in one chromosome and their reunion in a new position due to the turn of a site between breaks by 180 °

3) Loss of a final or median site of a chromosome

2. What is typical of Klinefelter syndrome?

1) Oligophrenia

2) Shot height

3) Defects of inner organs

4) Sexual infantility

3. What diseases are connected to numerical anomalies of sexual chromosomes?

1. Turner syndrome

2. Klinefelter syndrome

3. Down syndrome

4. What are duplications?

1) Loss of whole chromosome

2) Loss of a chromosome part

3) Displacement of one chromosome or its part to other pair (chromosome)

4) Doubling a site of a chromosome site

5) Turns of a chromosome site by 180 °

5. What parameters are used in classification of hereditary disease?

1) A type of inheritance

2) The period of intra-uterine development

3) Etiological

4) A kind and a degree of deficiency of a hereditary material.

6. What is translocation?

1) Loss of whole chromosome

2) Loss of a chromosome part

3) Displacrment of one chromosome or its part in to other pair (chromosome)

4) Doubling a site of a chromosome

5) Turns of a chromosome site by 180 °.

7. What is inversion?

1) Loss of all chromosome

2) Loss of a part of a chromosome

3) Moving one chromosome or its part to other pair (chromosome)

4) Doubling a site of a chromosome

5) Turns of a chromosome site by 180 °.

8. What chromosomes pathology is most frequently observed in Down syndrome?

1) Trisomy by 21-st p autosome pair

2) Trisomy by 16 autosome pair

3). Trisomy by 13 autosome pair

4). Trisomy of a sexual Х-chromosome.

9. From the given set of sexual chromosomes choose a variant, characteristic for Turner syndrome:

1) ХХУ

2) XXX

З) ХО

4) ХХУУ

10. From the submitted set of sexual chromosomes choose a variant, that is characteristic for Klinefelter syndrome:

1) ХО

2) ХХУ

3) XXX.

4) ХХУУ.

11. What are chromosomal ones?

1). Marfan syndrome

2) Diabetes

3) Down syndrome

4) Mucopolysaccharidose.

12. The disease caused by a chromosomal complement disorder is:

1. Mucoviscidosis

2. Down syndrome

4. Patau syndrome

5. Turner's syndrome

Lesson №3. Single-gene disorders

Questions for discussion-

1. How now a days is pathogenesis of genetic diseases understood?

2. What role is played by enzymes in disease development of?

3. Describe the classification of genic disease. On what is it based?

4. By what do monogenic diseases differ from polygenic ones?

5. With what is the division of monogenic diseases into two groups connected: with the revealed biochemical defect or the obscure biochemical defect?

6. What are the principles of classification of metabolic disease with the found out biochemical defect?

7. Describe the pathogenesis occurrence and the basic symptoms of phenylketonuria?

8. What is the essence of leukodystrophia?

9. What is the essence of hereditary diseases of connective tissues?

Test questions -

1. To what group of diseases does phenylketonuria belong:

1) diseases of carbohydrate exchange

2) diseases of e amino acids xchange

3) diseases of lipids exchange

2. To what group of diseases does mucopolysaccharidose belong:

1) diseases of carbohydrate exchange

2) diseases of amino acids exchange

3) diseases of lipids exchange

3. Marfan syndrome is:

1) Hereditary systemic degeneration of nervous system

2) Hereditary metabolic disease

3) Hereditary disease of connective tissues

4. Which of the following diseases are monogenic?

1). Phenylketonuria

2) Diabetes

3) Schizophrenia

4) Down syndrome

5) Klinefelter Syndrome

5. For what syndrome is the triad of symptoms characteristic: 1 - change in the skeleton (the asthenic build, the lengthened extremeties, spider finger, deformation of a thorax, weakness of the copular device); 2 - pathology of sight organs; 3 - a pathology of the cardiovascular system.

1) Marfan syndrome

2) Schizophrenia

3) Down syndrome

4) Klinefelter Syndrome

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