Medical Genetics - V. M. Zaporozhan 2005

Multifactorial Diseases
Review Questions for Chapter 7

1. What are multifactorial diseases? Their Classification.

2. General characteristics of multifactorial diseases.

3. How is genetic risk calculated in multifactorial diseases?

4. Genetics of Certain Common Multifactorial Diseases: coronary artery disease, Hypertension, Thrombophilia, Diabetes Mellitus, chronic pancreatitis, Bronchial Asthma, Epilepsy, Schizophrenia.

5. Genetic predisposition to infectious diseases.

6. What is ecogenetics? Examples of ecogenetic pathological reactions.

7. What is Pharmacogenetics? Phases of biotransformation.

8. Examples of pharmacogenetic pathological reactions.

Test and study questions

Choose a single answer.

1. Which Methods are used to prove the multifactorial nature of a disease?

A. Clinical-genealogical, twin, population-statistical

B. Cytogenetic and molecular-cytogenetic

C. Cytogenetic and molecular-genetic

D. Cytogenetic, molecular-genetic, and biochemical

E. Clinical-genealogical, cytogenetic, and molecular-genetic

2. The maximum genetic risk for developing a multifactorial disease is observed in first-degree relatives. What percentage of shared genes do they have?

A. 3.125 %

B. 5 %

C. 12.5 %

Table 7.13. Unusual drug reactions in patients with Hereditary diseases (Yu. I. Bazhora, 2003)

D. 25 %

E. 50 %

3. Genetic predisposition to the most common middle-age multifactorial diseases is determined by:

A. Autosomal dominant

B. Autosomal recessive

C. X-linked genes

D. Polygenic

E. Mitochondrial Genes

4. Name multifactorial diseases:

A. Marfan Syndrome and Ehlers-Danlos syndrome

B. Polydactyly, ectrodactyly

C. Diabetes mellitus, Essential Hypertension

D. Familial hypercholesterolemia

E. Mucopolysaccharidoses

5. If the first child has a multifactorial malformation, the empirical risk of having an affected child in each subsequent Pregnancy is (for most defects):

A. About 0 %

B. 1-2 %

C. 2-4 %

D. 5-7 %

E. 5-10 %

6. Name the mode of inheritance for anencephaly and Spina bifida:

A. Autosomal recessive

B. Autosomal dominant

C. X-linked recessive

D. X-linked dominant

E. Multifactorial

7. All of the following are characteristic of multifactorial diseases, except:

A. They are not inherited according to Mendel's Laws

B. The risk of having a child with a multifactorial disorder increases with a greater number of affected relatives.

C. The frequency of the pathology is equal in individuals of both sexes.

D. The risk of having a child decreases as the degree of relatedness to the affected individual becomes more distant.

E. The risk of having a child with a multifactorial disorder increases with the severity of clinical manifestations.

8. Healthy parents have a son born with a cleft lip (harelip). The risk of having a second child with this defect is:

A. About 0 %

B. 1-2 %

C. 2-4 %

D. 5-7 %

E. 5-10 %

9. Multifactorial diseases include:

A. Hemophilia, Sickle-Cell Anemia

B. Polydactyly, ectrodactyly

C. Phenylketonuria, cystic fibrosis

D. Schizophrenia, epilepsy, manic-depressive psychosis

E. Connective Tissue disorders (Marfan syndrome, etc.)

10. An association has been established between many multifactorial diseases and ABO Blood Groups. The risk of developing the disease for carriers of a specific blood group increases by 10–30%. A 21-year-old man consulted a medical genetics center for a prognosis regarding The Development of PEPTIC ULCER DISEASE. The proband's mother suffers from this condition. Which ABO blood group would put the man at a higher risk of developing the disease?

A. I (0)

B. II (A)

C. III (B)

D. IV (AB)

11. What is the primary method used to identify high-risk genetic groups for diabetes mellitus?

A. Clinical-genealogical

B. Twin study

C. Cytogenetic

D. Biochemical

E. Molecular genetic

12. A 20-year-old woman suffering from psoriasis visited a medical genetics counseling clinic for a prognosis regarding the health of her future children. Her husband is healthy, and there is no METABOLISM/13.html">History of the disease in his family. The risk of having a sick child is:

A. 0 %

B. 1-2 %

C. 2-4 %

D. 5-10 %

E. 20 %

13. A family visited a medical genetics center for a prognosis regarding the development of psoriasis in their 6-month-old child. The mother has psoriasis, and the father is healthy. The genetic risk of the disease will be high if the child carries the HLA antigen:

A. DR2

B. DR3

C. DR7

D. B8

E. B27

14. There is an association between multifactorial diseases and certain genetic markers (AB0 blood groups, HLA Antigens). Specify what this association means:

A. A higher frequency of the marker in patients than in healthy individuals

B. The Location OF THE disease-causing Gene and the marker gene on the same chromosome

C. The presence of recombination between the disease gene and the marker gene

15. When working with HIV-infected individuals, it is advisable to select people who are resistant to this disease. To do this, molecular Genetic Methods should be used to detect Mutations in the gene encoding:

A. Potassium channel Proteins (20q13.3)

B. An enzyme involved in the degradation of catecholamines (22q11)

C. A receptor On the surface of macrophages and T-lymphocytes (3p21)

D. MBL — mannose-binding serum lectin

E. SP-A and SP-B surfactant proteins

16. Today, a genetic predisposition to the development of chronic bronchopulmonary occupational diseases has been identified in miners. This predisposition is associated with a mutation in the gene encoding:

A. SP-A and SP-B surfactant proteins

B. Potassium channel proteins

C. a1-antitrypsin

D. Glutathione S-transferases

E. Monoamine oxidase

17. Residents of the Mediterranean basin and the Middle East often carry a mutant gene for glucose-6-phosphate dehydrogenase deficiency in erythrocytes (a recessive X-linked trait). Men carrying this mutant gene may experience adverse pharmacogenetic reactions (erythrocyte hemolysis) when taking:

A. Sulfonamides

B. Dithylilin

C. Isoniazid

D. Inhalation anesthetics

E. Codeine

18. Which medications can trigger a hemolytic crisis in individuals with glucose-6-phosphate dehydrogenase deficiency?

A. Nitrofuran derivatives

B. Tetracycline Antibiotics

C. Oral contraceptives

D. Antidepressants

E. Antacids

19. Following the administration of a standard dose of the antituberculosis drug isoniazid, some individuals experience adverse reactions associated with peripheral nerve damage. This pharmacogenetic reaction is caused by a mutation in the gene encoding the enzyme:

A. Cholinesterase

B. Hepatic N-acetyltransferase

C. Glucose-6-phosphate dehydrogenase

D. Glutathione S-transferase

E. DNA Repair Enzymes

20. A 35-year-old woman preparing for elective surgery informed the anesthesiologist that her mother and maternal uncle had experienced abnormal reactions to anesthesia during surgery, manifesting as a high fever (above 40 °C). This suggested the presence of a malignant hyperthermia gene in the family. All of the following statements regarding this situation are true, except:

A. Malignant hyperthermia is a sex-linked trait

B. The risk of developing malignant hyperthermia in a woman is 50%

C. The pathological reaction is caused by a mutation in the gene encoding the ryanodine receptor

D. Inhalation anesthetics (halothane, ethyl ether, etc.) are contraindicated

E. A reaction to the administration of Muscle relaxants is possible