Mitochondrial 12S rRNA variants studies in 456 subjects with hearing loss in seven schools for deaf and mutes in Zhejiang province
10.3760/cma.j.issn.1673-0860.2012.12.007
- VernacularTitle:浙江省7所聋校456例聋儿线粒体12S rRNA基因变异研究
- Author:
Guang-Hua PENG
1
;
Fang FANG
;
Jing ZHENG
;
Bin-Jiao ZHENG
;
Xiao YU
;
Yue WU
;
Ling-Zhi LIANG
;
Qiong-Min ZHANG
;
Yi ZHU
;
Xiao-Wen TANG
;
Bo-Bei CHEN
Author Information
1. 浙江省余姚市人民医院耳鼻咽喉科
- Keywords:
Hearing impaired persons;
DNA,mitochondrial;
RNA,ribosomal;
Mutation;
Aminoglycosides
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2012;47(12):996-1003
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate mutational spectrum and frequency of the mitochondrial 12S rRNA gene in Chinese subjects with aminoglycoside-induced and non-syndromic hearing loss.Methods Total of 456 subjects with non-syndromic hearing loss were recruited from seven schools for deaf-mutes in Zhejiang province.Genomic DNA was extracted from the whole blood,and then the DNA fragment was amplified spanning the 12S rRNA gene,followed by sequencing and analyzed.Results Thirty-one variants were identified by mutation analysis of 12S rRNA gene in these subjects.The frequency of the known 1555A ＞ G mutation was 4.4％ (20/456).Prevalence of other putative deafness-associated mutation at positions 961 and 1095 were 2.0％ (9/456) and 0.7％ (3/456) respectively.Furthermore,the 1027A ＞ G,1109T ＞ C and 1431G＞A variants conferred increased sensitivity to ototoxic drugs or non-syndromic deafness as they were absent in 449 Chinese controls and localized at highly conserved nucleotides of this 12S rRNA gene.Moreover,clinical data showed a wide range of age-of-onset,variety of severity and various audiometric configurations in subjects carrying the 1555A＞G mutation.Conclusions Our data demonstrated that the mitochondrial 12S rRNA gene is the hot spot for mutations associated with aminoglycoside ototoxicity and non-syndromic hearing loss.Nuclear modifier genes,mitochondrial haplotypes and environmental factors might play a role in the phenotypic manifestation of these mutations.
