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Lectures No. 6-7

1. Theme: Hereditary diseases of the person, reason and clinical implications

2. Purpose: to create at students modern knowledge of hereditary diseases of the person, the reasons and clinical implications

3. Theses of lectures:

3.1. Chromosomal illnesses: classification, external implications.

3.2. Autosomal and allosome syndromes.

3.3. Methods of diagnostics of chromosomal illnesses.

3.4. Gene illnesses. Classification of gene illnesses.

3.5. Monogene illnesses of the person.

3.6. Polygenic (multifactorial) illnesses of the person.

The illnesses caused by mutations are called as heriditary. Depending on character of a mutation distinguish heriditary diseases: chromosomal and gene (monogene, polygenic). The reason of chromosomal illnesses are genomic and chromosomal mutations. Frequency of genomic mutations depends on age of parents, especially mothers. У женщин старше 35-40 лет частота нарушений расхождения хромосом при мейозе в два раза выше, чем у женщин в возрасте 25-30 лет.

Chromosomal illnesses are classified on autosomal and allosome syndromes. For autosomal chromosomal illnesses the multiple developmental anomalies not compatible to life, coming to an end with fetal death at early stages of development are characteristic. Chromosomal illnesses treat: Patau, Edwards's syndromes, Down, Klaynfelter, Shereshevsky-Turner, trisomiya-X etc.

Diagnostics of chromosomal illnesses is based on the analysis of a karyotype of sick persons.

Gene illnesses are bound to mutations in genes. Depending on quantity of the mutated locuses distinguish monogene and polygenic illnesses. Monogene illnesses on a mode of inheritance share on autosomal and dominant, autosomal and dominant with incomplete dominance, autosomal and recessive, linked to sexual chromosomes X and Y. In separate group allocate illnesses of a metabolism: disturbances of an exchange of amino acids fenilketonuriya, alkaptonuriya, albinism etc.), lipids (syndrome Thea-Saks, xanthomatoses etc.), carbohydrates (galactosemia, fruktozemiya etc.), metals (Wilson-Konovalova illness etc.). Monogene illnesses are inherited under Mendel's laws.

Polygenic illnesses name still multifactorial as illness implication depends on influence (provoking) factors of environment. Them concern: ischemic heart disease, a stomach and duodenum peptic ulcer, schizophrenia, a gout etc.

4. Illustrative material: multimedia lectures No. 6-7.

5. Literature:

The main:

5.1. Bochkov N. P. Clinical genetics.M, 2006.

5.2. Genetics. Under the editorship of Ivanov V. I. M, 2006.

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