Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China
Yajie Lu
Dachun Dai
Zhibin Chen
Xin Cao
Xingkuan Bu
Qinjun Wei
Guangqian Xing
摘要：Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of hearing loss in the Chinese population,we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing lass (NSHL) for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA, tRNAseKucN' by PCR amplification and direct DNA sequencing. The carrier frequencies of deafness-causing mutations in these patients were 35.55% in GJB2, 3.70% in GJB6, 15.56% in SLC26A4 and 8.14% in mitochondrial 12SrRNA, re-spectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chi-nese population with nonsyndromic hearing loss.
机标关键词：Chinanonsyndromic hearing lossChinese populationgenetic screeningSLC26A412SrRNAmolecularGJB2
分类号：R764(耳科学、耳疾病)
资助基金：This work was supported by the Research Grant Award from the National Natural Science Foundation of China(31171217)the Open Research Grant of Medical Key Department(XF200719.KF200910)Technology Developmental Program from Nanjing Medical University(09NJMUM005)
论文发表日期：2011-01-01
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）
英文信息