Open AccessSLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss
Author(s) -
Pu Dai,
Qi Li,
Deliang Huang,
Yongyi Yuan,
Dongyang Kang,
David T. Miller,
Hong Shao,
Qingwen Zhu,
Jia He,
Fei Yu,
Xin Liu,
Bing Han,
Huijun Yuan,
Orah S. Platt,
Dongyi Han,
Bai-Lin Wu
Publication year - 2008
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.0b013e31817d2ef1
Subject(s) - sensorineural hearing loss , hearing loss , medicine , genetics , allele , mutation , polymorphism (computer science) , compound heterozygosity , cohort , heterozygote advantage , allele frequency , audiology , gene , biology
Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently identifiable genetic cause of sensorineural hearing loss. In most areas of China, genetic testing for sensorineural hearing loss is unavailable because of limited knowledge of the mutation spectrum. Although SLC26A4 c.919-2A>G (IVS7-2A>G) is a common mutation among some Asian populations, the mutation prevalence among various ethnic groups within China has not been studied.
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