Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.

Sergey N Bardakov,Roman V Deev,Аrtur А Isaev,Nikita N Khromov-Borisov, Evgeniy D Kopylov, Мaria R Savchuk, Maxim S Pushkin, Evgeniy V Presnyakov,Raisat M Magomedova, Patimat G Achmedova,Zoya R Umakhanova, Vladimir S Kaimonov, Elizaveta V Musatova, Konstantin А Blagodatskikh,Aleksandra А Tveleneva, Yana V Sofronova,Ivan A Yakovlev

Molecular genetics & genomic medicine（2023）

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摘要

A significant burden of the allele was due to inbreeding, as evidenced by a deficiency of heterozygotes and the Wright fixation index equal to 0.14 (CI 0.06-0.23).

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关键词

DYSF, dysferlinopathy, endemic allele, endogamy, ethnic isolate, founder effect

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