Abstracts

Human Genome Diversity

With the purpose of detection of founder effect in Bashkortostan, representing mixed on ethnical structure population, the molecular-genetic analysis of mutations and polymorphic loci in genes responsible for the most widespread hereditary pathology in Bashkortostan (phenylketonuria (PKU), cystic fibrosis (CF), classical congenital adrenal hyperplasia (CAH), Wilson-Konovalov disease (WKD) and haemophilia A (HA)) were carried out. P The molecular-genetic study of mutations and linked polymorphic haplotypes in hereditary diseases genes allows us to conclude that origin of monogene hereditary pathology in Bashkortostan is conditioned by founder effect and connected with recently migration of slavic populations on the East.

Note. Abstracts are published in author's edition

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