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Article

Heteroplasmy levels of mtDNA1555A>G mutation is positively associated with diverse phenotypes and mutation transmission in a Chinese family.

Biochemical and biophysical research communications - 20 Apr 2012

Shen Shan-Shan, Liu Chang, Xu Zhi-Yong, Hu Yu-Hua, Gao Guo-Feng, Wang Sha-Yan

Abstract excerpt

The mtDNA 1555A>G mutation was considered to be one of the most common causes of aminoglycoside-induced and non-syndromic hearing loss. However, this mutation was always found in homoplasmy with high phenotypic heterogeneity. Recently this mutation in heteroplasmy has been reported in several studies. In the present study, we have collected a large Chinese family harboring heteroplasmic mtDNA 1555A>G mutation...

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Identifiers

PMID: 22475488
DOI: 10.1016/j.bbrc.2012.03.100

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