Open AccessThe prevalence of the 235delC GJB2 mutation in a Chinese deaf population
Author(s) -
Pu Dai,
Fei Yu,
Bing Han,
Yongyi Yuan,
Qi Li,
Guojian Wang,
Xin Liu,
Jia He,
Deliang Huang,
Dongyang Kang,
Xin Zhang,
Huijun Yuan,
Eric Schmitt,
Dongyi Han,
LeeJun C. Wong
Publication year - 2007
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1097/gim.0b013e31804d2371
Subject(s) - medicine , hearing loss , genetics , compound heterozygosity , allele frequency , population , mutation , chinese population , polymerase chain reaction , allele , genotype , pediatrics , gene , biology , audiology , environmental health
Mutations in the GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment in populations studied to date. However, the prevalence of mutations varies among different ethnic groups. In most areas of China, genetic testing for nonsyndromic hearing impairment is currently not available because of the lack of information regarding the molecular cause of nonsyndromic hearing impairment. The purpose of this study is to determine the prevalence of a common GJB2 mutation, 235delC, in Chinese deaf children.
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