4. Principal Questions of the Theme:

1. Clinical-genealogical method. Principles of compilation of the family tree, symbols and their meaning.

2. Cytogenetic method. Analysis and deciphering of karyotypes in case of different types of chromosome diseases.

3. Biochemical methods of research, principles of diagnostics of hereditary diseases.

4. Direct and indirect methods of DNA diagnostics, principles and mechanisms of identification of genic mutations in case of hereditary diseases

5. Methods of Teaching:combined method of education (conversation, drawing up the algorithm of diagnostics of inherited pathology)

6. Literature:

Basic:

1. Biology. Under redaction of Yarygin B.N. M., 2001. V1, pp. 264-285, 569-591

2. Bochkov N.P. Clinical Genetics. M., 2006, pp. 72-132, 323-359, 397-447

3. Genetics. Under redaction of Ivanov V.I. M., 2006, pp. 380-410

4. Medical Biology and Genetics. Study guide under redaction of Prof. Kuandykov Y.U. Almaty, 2004, pp. 179-184

5. Chshipkov V.P., Krivosheina G.N. General and Medical Genetics. M., 2003, pp. 137-186, 228-246

6. Kuandykov Y.U. Fundamentals of General and Medical Genetics. A., 2008, pp. 112-120

7. Control:

1. Evaluation of competence – knowledge

   1. Interrogation on questions of the theme

   2. Test control – 2 variants, 10 questions each

   3. Drawing up and genealogical analysis of family trees: Proband – healthy woman. Her sister is healthy, and two brothers suffer with daltonism. Mother and father of the proband are healthy, four sisters of the mother of the proband are healthy; their husbands are healthy. It is known about the cousins of the proband’s mother that in one family there is one diseased cousin (male), two cousins (female) and one cousin (male) are healthy. In two other families there are one diseased cousin (male) and one healthy cousin (female). The proband’s grandmother from the mother’s side is healthy, and the grandfather suffered with daltonism. There are no relatives from the proband’s father’s side who suffer with daltonism. Draw up the family tree. Determine:

1. type of inheritance of this pathology and, if possible, genotypes of persons of this family tree;

2. probability of birth by the proband of children diseased with daltonism on the condition that she marries a healthy man;

3. what advice must a physician-genetic give to the proband?

4. Draw up the algorithm of diagnostics of inherited pathology (Down’s syndrome, Kleinfelter syndrome, phenylketonuria)

Collection of anamnesis (determine the data that permit to reveal families with increased risk of birth of a child with hereditary pathology)

Principal clinical symptoms that permit to suspect inherited pathology

chromosome genic

Methods of diagnostics that permit to make the preliminary diagnosis more precise

In case of chromosomal diseases In case of genic diseases

Lesson number 8