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

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Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China

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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 loss (NSHL) for mutational screening of GJB2,GJB3,GJB6,SLC26A4,SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA,tRNA Ser(UCN) 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,respectively.The results indicate the necessity of genetic screening for mutations of these causative genes in Chinese population with nonsyndromic hearing loss.

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《生物医学研究杂志：英文版》 |2011年第005期|P.309-318|共10页
作者
Yajie Lu; Dachun Dai; Zhibin Chen; Xin Cao; Xingkuan Bu; Qinjun Wei; Guangqian Xing;
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作者单位

^pof;

Bioteehnology,;

Nanjing;

Medical;

University,;

Nanjing,;

Jiangsu;

210029,;

China;

^pof;

Otolaryngology,;

the;

First;

Affiliated;

Hospital;

of;

Nanjing;

Medical;

University,;

Nanjing,;

Jiangsu;

210029,China.;

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原文格式 PDF
正文语种 CHI
中图分类 Q959.223.5;
关键词
听力损失; 分子筛选; 中国城市; 综合征; 患者; 12SrRNA; 基因突变; 南京;

机译：听力损失;分子筛选;中国城市;综合征;患者;12SrRNA;基因突变;南京;

Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China

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