Preliminary Analysis On Variations And Mutations Spectrum Of MYO7A And MYO15A Genes In Han And Yi Deafness Populations Of Yunnan Province

Objectives: Deafness is a common sensory nerve disease that seriously affects the quality of human life and causes disability.Deafness caused by genetic factors accounts for about 50%,but due to the high heterogeneity of inherited deafness,and for the common pathogenic deafness genes with large number of exons,such as MYO7 A and MYO15 A genes,the traditional one-generation sequencing pair has low detection flux and limited ability to identify pathogenic mutations.The emergence of Next-generation sequencing is a good complement to the shortcomings of traditional sequencing technologies.We carried out the target region capture combined high throughput sequencing for the samples of the deafness people collected in parts of Yunnan,and analyzed and counted the sequencing results by bioinformatics to preliminarily draw the variations and mutations spectrum of the MYO7 A and MYO15 A genes,in order to fill the gaps in the study of the MYO7 A and MYO15 A genes in the Yunnan region,and provide certain data reference for the prevention and control of hereditary deafness in Yunnan.Methods: Target region capture and high-throughput sequencing of peripheral blood genomic DNA in deaf patients,using all exons of 124 inherited deafness-associated genes and 100 bp per extension on both sides of each exon as target regions,bioinformatics analysis was used to find MYO7 A and MYO15 A mutation sites,and to make a statistical analysis of the occurrence of the loci,then draw the MYO7 A and MYO15 A gene variations and mutations spectrum in Yunnan region.Results: We collected a total of 116 patients with deafness in some parts of Yunnan,including 43 Han and 73 Yi.In 43 cases of Han nationality deafness population,24MYO7 A gene variants were found,including 9 polymorphic variation sites and 15low-frequency variation sites.MYO15 A gene mutation sites were screened out in 24 species,that is,13 polymorphic variation sites and 11 low frequency mutation sites.A total of 26 variants of MYO7 A were found in 73 Yi populations with deafness,7polymorphic variants and 19 low-frequency variants.There were 40 variants of MYO15 A,including 18 species of polymorphic variation sites and 22 low frequency variant sites.The mutation and mutation spectrums of the MYO7 A and MYO15 A genes in deafness populations in Yunnan were initially mapped.At the same time,we conducted a genetic analysis of the pathogenicity of two mutations,c.2183T>C and c.2187+2_+8del TGAGCAC of the MYO7 A gene found in a Yunnan Han family.Conclusion: In Yunnan deafness patients,the mutation sites of MYO7 A and MYO15 A genes are ubiquitous,and the suspected pathogenic mutation sites are also distributed in the population of deafness in Yunnan.However,there are some differences in the variation and mutation spectrum of the two genes in Han and Yi populations.We analyzed the pathogenicity of a compound heterozygous mutant of MYO7 A found in a Chinese Han family and found that this compound heterozygous mutation is closely related to the occurrence of this family of deafness.These efforts have enriched the MYO7 A and MYO15 A gene variations and mutations spectrum in Yunnan,and provided theoretical basis and technical support for early diagnosis,early intervention and genetic counseling of deaf patients in Yunnan.