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Article

Allele-specific PCR for detecting the deafness-associated mitochondrial 12S rRNA mutations.

Gene - 10 Oct 2016

Ding Yu, Xia Bo-Hou, Liu Qi, Li Mei-Ya, Huang Shui-Xian, Zhuo Guang-Chao

Abstract excerpt

Mutations in mitochondrial 12S rRNA (MT-RNR1) are the important causes of sensorineural hearing loss. Of these mutations, the homoplasmic m.1555A>G or m.1494C>T mutation in the highly conserved A-site of MT-RNR1 gene has been found to be associated with both aminoglycoside-induced and non-syndromic hearing loss in many families worldwide. Since the m.1555A>G and m.1494C>T mutations are sensitive to ototoxic...

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Identifiers

PMID: 27397648
DOI: 10.1016/j.gene.2016.07.013

Genes

GJB2
TRMU

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