Founder effect of mutation of GJB2 on the patients of deafness in China / 解放军医学杂志

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.