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Article

[Mitochondrial DNA G7444A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation].

Yi chuan = Hereditas - 1 Jun 2008

Yang Ai-Fen, Zhu Yi, Lu Jian-Xin, Yang Li, Zhao Jian-Yue, Sun Dong-Mei

Abstract excerpt

Mitochondrial 12S rRNA and tRNASer(UCN) genes are the hot spots for mutations associated with hearing loss. We reported here the clinical, genetic and molecular analysis of a Chinese pedigree with maternally inherited sensorineural hearing loss. Molecular analysis showed that the pedigree carried both mitochondrial DNA (mtDNA) A1555G and G7444A mutations. The penetrance of hearing loss in this pedigree was 58%...

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Source

Identifiers

PMID: 18550495
DOI: 10.3724/sp.j.1005.2008.00728

Genes

UCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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