Ethnic marriage assortativeness and intensity of metisation of Karachays

El’chinov, G. I.; Shakmanov, M. M.; Revazova, Yu. A.; Ivanov, A. I.; Rusakova, A. V.; Зинченко, Р. А.

doi:10.1134/s1022795415070030

Cited by 7 publications

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“…Studies conducted by anthropologists in primitive lifestyle populations determined the average age of one generation to be 30 years [ 14 ]. According to a study conducted in the Karachay-Cherkess Republic, the average age of a generation is 26.98 years [ 7 ]. Therefore, the time for which the accumulation of the p.Arg261* variant occurred in the Karachay people is 275 ± 73 years.…”

Section: Resultsmentioning

confidence: 99%

“…In two cities of the region, Karachaevsk and Cherkessk, representatives of these groups live together, but in the rural districts, ethnoses are largely isolated from each other. Monoethnic marriages between Karachays, according to epidemiological studies, account for 88.3% of marriages [ 7 ]. In a small population, this situation can decrease genetic variability and change the frequency of homozygotes in the population; in particular, an increase in the frequencies of specific nosological forms is possible.…”

Section: Introductionmentioning

confidence: 99%

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Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus

et al. 2018

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Phenylketonuria is an inherited disease caused by mutations in the phenylalanine hydroxylase gene PAH. Different PAH pathogenic variants occur in different ethnic groups with various frequencies and the incidence of the disease itself varies from country to country. In the Caucasus region of Russia, some ethnoses are geographically and culturally isolated from each other. The tradition of monoethnic marriages may cause decreased genetic variability in those populations. In the Karachay-Cherkess Republic (Russia), the highest incidence of phenylketonuria in the world has been detected (1:850 newborns) in the region and 1:332 among the titular nation Karachays. Here, we showed that this phenomenon is due to the widespread prevalence of the p.Arg261* variant. Its allele frequency among Karachay patients with PKU was 68.4% and the carrier frequency in Karachays was 1:16 healthy individuals. PAH haplotype analysis showed a unique common origin. The founder haplotype and mutation “age” were estimated by analyzing the linkage disequilibrium between p.Arg261* and extragenic short tandem repeat loci. The p.Arg261* variant occurred in the Karachays population 10.2 ± 2.7 generations ago (275 ± 73 years) and its spread occurred in parallel with the growth of the population.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%