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Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation.

Mitochondrion - 1 Nov 2009

Zhu Yuhua, Li Qi, Chen Zhengyi, Kun Yao, Liu Lijia, Liu Xin, Yuan Huijun, Zhai Suoqiang, Han Dongyi, Dai Pu

Abstract excerpt

Mutations in mitochondrial DNA (mtDNA) are associated with sensorineural hearing loss. In this study, we traced the origin of the 12S rRNA C1494T mutation through analysis of the clinical, genetic, and molecular characteristics of 13 Han Chinese pedigrees with aminoglycoside-induced and non-syndromic bilateral hearing loss that were selected by C1494T screening in 3133 subjects with non-syndromic hearing...

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Identifiers

PMID: 19682603
DOI: 10.1016/j.mito.2009.07.006

Genes

GJB2

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Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation.PMID 19682603Read ↗

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