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Theme: Modern Methods of Diagnostics of Hereditary Diseases

2. Object: form students’ modern knowledge of the methods of diagnostics of hereditary diseases.

3. Educational Tasks:

- familiarize students with the key methods of diagnostics of hereditary diseases;

- reveal the essence and significance of the clinical-genealogical method for identification of the inheritable character of a disease;

- reveal the essence of cytogenetic method and its significance for diagnostics of chromosome diseases;

- reveal the essence of biochemical methods of research and their significance for diagnostics of inherited defects of metabolism;

- reveal the essence of molecular-genetic methods of DNA analysis and their significance in diagnostics of hereditary diseases;

- adopt the skills of physician’s thinking in the process of identification and diagnostics of hereditary diseases.

4. Principal Questions of the Theme:

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

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

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

4.4. 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:

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

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

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

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

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

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

7. Control:

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