Analysis of deafness-related gene mutations in 100 non-syndromic hearing loss patients in Henan province.
- Author:
Aili YANG
;
Manying GENG
;
Hui ZHANG
;
Xiaoyan GUO
;
Jianfen TANG
;
Fugen HAN
- Publication Type:Journal Article
- MeSH:
China;
Connexin 26;
Connexins;
genetics;
DNA Mutational Analysis;
DNA, Mitochondrial;
genetics;
Deafness;
genetics;
Gene Frequency;
Humans;
Membrane Transport Proteins;
genetics;
Mutation;
RNA, Ribosomal;
genetics;
Sulfate Transporters
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2015;29(22):1959-1962
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To preliminarily determine the gene mutation frequency and the hotspots in Henan province, we analysed the deafness-related gene mutation in patients with non-syndromic hearing loss (NSHL).
METHOD:Genomic DNA samples of 100 patients with NSHL in Henan province were extracted from peripheral blood after clinical history inquiry and clinical examination, Four common deafness genes GJB2, SLC26A4, mitochondrial 12SrRNA, and GJB3 were detected by Sanger sequencing method,and then data analysis were conducted.
RESULT:Among 100 patients with NSHL. the gene mutation frequency was 44%. In these patients, 29 cases had GJB2 mutations, 13 cases had SLC26A4 gene mutations, and 3 cases had mitochondrial 12SrRNA mutations.
CONCLUSION:Among the patients with NSHL in Henan province, the most frequent mutation causing hereditary deafness was mutation in GJB2, followed by SLC26A4,and it will provide a theoretical basis to determine the etiology of deafness in Henan Province.
