Estimation of the heterozygote carrier frequency of frequent hereditary diseases in the Yakuts using oligonucleotide microarray

Abstract

The aim of current research is to estimate the heterozygote carrier frequency of often found mutations. After genotyping of 120 samples from healthy individuals of yakut ethnic group 5 carriers of mutation in CUL7, 4 carriers of mutation in NBAS, 6 carriers of mutation in DIA1 and 8 carriers in GBJ2 were revealed. The results confirming once again the data previously described by other authors and indicate a high frequency of mutation carriage in the studied genes in population of yakut origin.