GJB2 mutation spectrum in deaf population in a typical southeastern area of China

查看全文 作　　者：DAI Pu1*, YOU Yi-wen2*, CUI Jing-hong2*, YU Fei1, HAN Bing 1, KANG Dong-yang1, YUAN Hui-jun1, HAN Dong-yi1, 1. Department of Otolaryngology, PLA General Hospital, Beijing, People’s Republic China, 100853 2. Department of Otolaryngology, Nantong University Affiliated Hospital, Nantong, Jiangsu Province, People’s Republic China, 226001 *Pu Dai, Yiwen You, Jinghong Cui contribute equally to this paper

出　　处：《Journal of Otology》索引2006年第1卷第2期,共5页

基　　金：This work was supported by the Chinese National Nature Science Foundation research Grant 30572015;Beijing Nature Science Foundation research Grant 7062062. 摘　　要：Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In China, 30,000 infants are born with congenital hearing impairment annually. In order to provide appropriate genetic testing and counseling to the families, we investigated the molecular etiology of nonsyndromic deafness in 103 unrelated school children attending Nantong School for the Deaf and Mute in Jiangsu Province, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. Sixty two GJB2 mutant alleles were identified in 35.9% (37/103) of the patients. Twenty five patients carried two pathogenic mutations and 12 patients carried one mutant allele. The 235delC was the most common mutation accounting for 69.4% (43/62) of GJB2 mutant alleles. The GJB2 mutant alleles accounted for 30.1% (62/206) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 3 most prevalent deleterious frame shift mutations in this cohort detected 100% of all GJB2 mutant alleles. These results demonstrate that an effective genetic testing of GJB2 gene for patients and families with nonsyndromic hearing impairment is possible. 关键词：HEARING impairment genetic testing NONSYNDROMIC DEAFNESS jiangsu province ETHNIC groups

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GJB2 mutation spectrum in deaf population in a typical southeastern area of China

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