4. Principal Questions of the Theme:

1. Definition of human genic diseases and their classification

2. Types of inheritance of human monogenic diseases. Conditions of mendelization

3. Ferment pathologies. Haemoglobin pathologies. Diseases of morphogenesis impairment.

4. Etiology, pathogenesis, key clinic signs, methods of diagnostics, treatment, and prevention of ferment pathologies by example of phenylketonuria

5. Etiology, pathogenesis, key clinic signs, methods of diagnostics, treatment, and prevention of haemoglobin pathologies by example of sickle-cell anemia

6. Etiology, pathogenesis, key clinic signs, methods of diagnostics, treatment, and prevention of morphogenesis impairment by example of Marfan’s syndrome

5. Methods of Teaching:interrogation aimed at clarification of students’ understanding of the essence, object, and objectives of the lesson; ability to briefly, clearly, logically recount and ability of draw the learnt material in the form of schemes, diagrams, drawings; testing with subsequent discussion of errors; work in group: explanation and demonstration of problem solution, filling-in schemes

6. Literature:

1. Bochkov N.P. Clinical Genetics. M., PH “GEOTAR – Med”, 2004, pp. 13, 47-64, 136-178, 210-255, 261-271

2. Faller D.M., Denis Shields. Molecular Biology of the Cell. Guide for physicians. M., Binome-press. 2006, pp.110, 123-125, 169-171, 186-187

3. Inge – Vechtomov S.G. Genetics with Fundamentals of Selection. M.: Higher School. 1989, pp. 23-54, 85-108, 496-498

4. Mushkambarov N.N. Molecular Biology. M., 2003, pp. 163, 518-250

5. Genetics. Schoolbook for universities (under redaction of Academician of RAMS Ivanov V.I. ), pp. 12-39, 82-99, 116-125, 173-181

6. Alberts B. et al. Molecular Biology of the Cell. Translation from English, V 2. M.: Mir1994

7. Introduction to Molecular Medicine. Under redaction of M.A. Paltsev. M.: Medicine, 2004, pp. 11-32

8. Ginter Y.K. Medical Genetics, M., Educational Medicine, 2003, pp. 22-27, 64-141

9. Zhimulyov I.F. General and Molecular Genetics. Novosibirsk, 2003, pp.31-38, 40-48, 452

10. F.Iala, J.Kaiger. Modern Genetics. M.: Mir 1988, V1, pp.37-56, 64-80, V2, pp. 321, 334-341, V3, p. 61

7. Control:

1. Evaluation of competence – knowledge

   1. Filling-in tables:

Table 1

Types of Inheritance and Clinical Manifestations of Mendeling Human Monogenic Diseases

N ames of Mendelian diseases Types of inheritance	Disease	Clinical manifestations

2. Evaluation of competence –communicative skills

   1. Work in a small group – role play “Doctor – Patient” (is carried out according to the methodical recommendation developed for such work)