Из абстрактов докладов на
European Human Genetics Conference 2012
Title: P10.34 - Genetic history of “Yakut” diseases
Keywords: isolated populations; genetic diversity; ethnic-specific diseases
Authors: V. A. Stepanov1, N. Maximova2, V. Kharkov1, K. Kurtanov2, A. Marussin1;
1Institute for Medical Genetics, Tomsk, Russian Federation, 2Yakut Scientific Centre, Yakutsk, Russian Federation.
Abstract: The phenomenon of accumulation of rare genetic diseases in isolated populations with founder effect is well known. French Canadians, Ashkenazi Jews, Finns, Afrikaners are among the examples. In Siberian Russia the Yakut population is characterized by the accumulation of several monogenic disorders with the prevalence in Yakuts more than ten times higher that anywhere in the World. Such diseases as spinocerebellar ataxia 1, myotonic dystrophy, inherited methemoglobinemia, oculopharyngeal muscular dystrophy (OPMD), Yakut short stature syndrome (3M syndrome) and recently described SCOP syndrome belong to the list of “Yakut” diseases.
We have investigated the genetic variability in Yakuts using Y-chromosomal, mtDNA, X-chromosomal markers and genome-wide SNPs, and found reduced genetic diversity associated with the bottleneck effect. This effect, according to phylogeny of specific Yakut Y-chromosomal lineages, is dated back to 11th - 12th centuries.
Haplotype analysis of CUL7 gene in 3M syndrome, NAG gene in SCOP syndrome and PABPN1 gene in OPMD suggested that the accumulation of the disorders in Yakuts was driven by two major events: a bottleneck about 1000 years ago, associated with the initial migration of ancestors of modern Yakuts from south to north; and population expansion approximately 350 years ago when Yakuts extended from the central part into the territory of their modern settlement.
We suggest that research of Mendelian and common diseases in isolated Siberian populations may provide a new source of understanding of disease genetics, as well as improving the quality of health care to indigenous peoples.
Бутылочное горлышко около 1000 лет назад у предков якутов подтверждается данными по специфическим генетическим заболеваниям, частота которых у якутов более чем в 10 раз выше среднемирового уровня.
Это четкое подтверждение правильности использования генеалогических скоростей мутаций против "популяционной скорости" 0.00069 на локус на поколение.