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ОМ УМК на анг. языке 2012-2013 уч. год.doc
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  1. Title: Monogenic nonmendelian human disease

  1. Aims: To generate in students the knowledge of nonmendelian monogenic human disease.

  2. Learning objectives:

-provide students with the terms of monogenic nonmendelian diseases and their classification.

-to reveal the role of molecular genetic factors in the development of monogenic nonmendelian diseases of person

- -discover the essence of monogenic nonmendelian diseases of person

and their place in human hereditary diseases

-to reveal the role of genetic factors in the formation of monogenic nonmendelian diseases of person

-to acquaint the students with the value of monogenic nonmendelian diseases of person

in health care in Kazakhstan, their contribution to perinatal, infant and general death rates.

- show the role and importance of early diagnosis and prevention of monogenic nonmendelian diseases of person

  1. Type of course: a conversation on the subjects fill the table, the job skills.

  2. Tasks related to:

A talk on the following issues:

5.1.Determination of monogenic nonmendelian diseases and their classification.

5.2. The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of mitochondrial disease (MD). The classification of mitochondrial diseases.

5.3. The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of imprinting diseases (ID)

5.4. . The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of trinucleotide repeat diseases (TRD)

6.4. The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of prion disease (PD)

  1. Handout material: test-2 version with 10 questions

  1. References:

    1. Bochkov, NP, "Clinical Genetics" M Publishing House "GEOTAR-MED", 2005 pages 13,47-64,136-189,210-255,261-271.

    2. Fuller, DM, Dennis Shilds.Molekulyarnaya cell biology. Guidelines for vrachey.M: Bean Press, 2006, pp. 110,123-125,169-171,186-187.

    3. Inge-Vechtomov S.G.Genetika selektsii.M with the basics: High School 1989, pp. 23-54,85-108,496-498.

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

Page 139 from 221

    1. "Genetics". Textbook for High Schools (edited by Academician of the RAMS Ivanov VI) 12-39,82-99,116-125,173-181 page.

    2. Albert B. et al "Molecular Biology of the Cell." Translation from English Part 2 M: The world in 1994.

    3. Introduction to Molecular Medicine ". Edited M.A.Paltseva.M: Medicine, 2004, pp. 11-32.

    4. Ginter EK "Medical Genetics" M: 2003, pp. 22-27,64-141.

    5. IF Zhimulev "General and Molecular Genetics", Novosibirsk, 2003, pp. 31-38,40-48,452.

    6. F.Ayala, J. Kayger. "Modern genetics" M: World of 1988, Part 1, pp. 37-56,64-80, part 2, pp. 321,334-341, part 3, page 61