Screening of GJB2 mutations in Chinese population
HAN Ming-kun
HAN Dong-yi
GUO Yu-fen
LI Qing-zhong
ZHAO Ya-li
RAO Shao-qi
YUAN Hu
ZONG Liang
GUAN Jing
XU Bai-cheng
WANG Da-yong
LAN lan
WANG Qiu-ju
摘要：The GJB2 gene (connexin 26) has been shown to be responsible for DFNB1 and DFNA3. We screened the GJB2 gene in 488 patients with prelingual deafness (Group 1 ), 124 with postlingual deafness(Group 2), and 117 normal hearing subjects (Group 3). We found that, in Group 1, 65 patients (13.32%) were homozygotes or compound heterozygotes and 51 patients (10.45%) carried a single pathogenic mutation. The 235delC mutation was the most frequent mutation, accounting for 73.22% of the known pathogenic alleles in Group 1. No homozygotes or compound heterozygotes were detected in Group 2 or Group 3. Some postlingual deaf patients (2.42%) and normal hearing subjects (4.27%) were 235delC carriers. Our preliminary data indicate that 235delC, the most frequent mutation identified in this study, is a major cause for prelingual deafness.
机标关键词：
分类号：R76(耳鼻咽喉科学)
论文发表日期：2007-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：5( 18-22 )
英文信息