Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population.
- Author:
Gu TIAN
1
;
Yu-he LIU
;
Yi-nan MA
;
Yu-jie LI
;
Ying ZHANG
;
Shu-lan NIU
;
Yuf-eng XU
;
Pei PEI
;
Song-tao WANG
;
Ding-fang BU
;
Bo-ran DU
;
Xiang ZHOU
;
Xiao-mei KE
;
Yu QI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Aminoglycosides; adverse effects; Anti-Bacterial Agents; adverse effects; Asian Continental Ancestry Group; genetics; Child; China; DNA, Mitochondrial; genetics; Female; Hearing Loss; chemically induced; ethnology; genetics; Humans; Male; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; RNA, Ribosomal; genetics
- From: Chinese Journal of Medical Genetics 2007;24(4):464-466
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.
METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to screen the mitochondrial DNA 12S rRNA C1494T mutation in 20 patients with aminoglycoside antibiotic induced hearing loss, 136 sporadic non-syndromic hearing loss patients and 50 probands of pedigrees with non-syndromic hearing loss.
RESULTSThe C1494T mutation did not appear in all cases except for the positive control.
CONCLUSIONIncidence of mitochondrial DNA C1494T mutation is much lower than that of mitochondrial DNA A1555G mutation in non-syndromic hearing loss of Chinese population. Mitochondrial DNA C1494T mutation may be a rare variation in non-syndromic hearing loss and is not the main cause of aminoglycoside antibiotic induced-deafness.
