To chapter 1
1. The concept of “heredity as an etiological factor” was formed:
a) at the end of the 19th century;
b) the beginning of the 20th century (Mendelism);
c) simultaneously with the chromosome theory of heredity;
d) simultaneously with the discovery of the DNA structure.
2. The object of study of clinical genetics is:
a) the patient;
b) the patient and his sick relatives;
c) the patient and all members of his family including healthy ones.
3. Genetic technologies in medicine and healthcare are used for:
a) disease classification;
b) creating new vaccines;
c) diagnosis of hereditary and infectious diseases.
4. The founder of Russian clinical genetics:
a) N.K. Koltsov;
b) S.G. Leviticus;
c) S.N. Davidenkov;
d) V.M. Florinsky.
5. Hereditary burden of the human population includes:
a) pathological mutations accumulated in the process of evolution;
b) newly emerging mutations in somatic cells;
c) newly emerging mutations in germ cells.
6. The frequency of hereditary and congenital diseases among newborns is:
a) 5–5.5%;
b) 3–3.5%;
c) 9–10%;
d) 0.1–1.0%.
7. The number of known clinical forms of hereditary diseases is approximate:
a) up to 3000;
b) 4000–4500;
c) 6000–10,000;
d) 80,000–100,000.
8. Eliminate incorrect statements:
a) there are no such traits that would depend only on heredity or only on the environment;
b) hereditary variability leading to variations in normal traits or leading to hereditary diseases, are two different kinds of variability;
c) a sharp increase in the frequency of hereditary pathology caused by an increase in the mutagenic load, population migration and the destruction of marital boundaries is expected in the near future;
d) new mutations can be fixed in the population by natural selection.
9. The percentage of hereditary and congenital diseases out of the causes of death of children in the 1st year of life is:
a) 50%;
b) 70%;
c) 25%;
d) 5%.
10. The symptoms of a hereditary disease caused by an enzyme deficiency occur most often:
a) in the intrauterine period;
b) in the period from birth to 1 year;
c) in childhood (up to 14 years);
d) from 15 to 50 years;
e) after 50 years.
11. The term “genetic imprinting’ refers to:
a) “marking” of the chromosome locus of one of the parents;
b) type of genetic memory (for example, unconditioned reflexes);
c) chromosome mapping.