Abstracts

Human Genome Diversity

Trinucleotide repeats are the class of highly polymorphic STRs, expansion of which leads to several of human diseases. The expansions of CAG in IT-15 and CTG repeats in DMPK are associated with Huntington's disease and myotonic dystrophy respec-tively.

The aim of the present research was to study polymorphism of CAG and CTG re-peats in 10 populations of the Volga-Ural region and test the hypothesis about unstable transmission within normal range.

24 CTG allelic variants with bimodal frequency distribution and 19 CAG ones were detected. CTG/CAG repeats' distribution is characterized with a high range of varia-tions: from 5 to 34 repeats for CTG and from 10 to 32 for CAG repeats. A majority of alleles in these populations contain 5 and between 11-14 for CTG and 13-15 for CAG repeats. Investigated populations reliably differ, that is evidence of subsistence of populations' heterogeneity. Heterozygotes' frequency varies from 70% to 92% for CTG and from 51% to 59% for CAG repeats. CTG repeats transmission within 50 healthy families showed change CTG22 to CTG26 and CTG32 to CTG20. Within normal repeat range frequency of new mutations is 4% and passage unstability occurs in alleles CTG>19. So it has been demonstrated that the populations of Volga-Ural region are between European and Asian populations, and are more close to the Asian.

Note. Abstracts are published in author's edition

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