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 DeevАrtur А IsaevNikita 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

Published in: Molecular genetics & genomic medicine (2023)

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).

Keyphrases

genome wide
copy number
minimally invasive
dna methylation
genome wide identification
replacement therapy
risk factors
gene expression
genome wide analysis