Founder effect of mutation of GJB2 on the patients of deafness in China
- VernacularTitle:GJB2基因突变始祖效应对中国耳聋人群的影响
- Author:
Qingzhong LI
;
Qiuju WANG
;
Dongyi HAN
- Publication Type:Journal Article
- Keywords:
deafness;
gene, GJB2;
DNA mutation analysis;
connexins
- From:
Medical Journal of Chinese People's Liberation Army
1983;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To determine the frequency of GJB2 mutations in the China hearing loss population, and to screen the GJB2 gene in both hearing loss and normal populations. Methods 141 patients with hearing loss and 150 normal persons (control) underwent mutation screening of single coding exon of GJB2 with bidirectional sequencing to identify sequences alterations. Results Three polymorphisms were found: 79G→A, 109G→A, and 341A→G; and four pathologic mutations were identified: 235delC, 455A→G, 176-191del16 and 504insGCAA. Conclusion The 235delC mutation was found to be the significant cause of hearing loss in Chinese population.
