[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population].
OBJECTIVE
To conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.


METHODS
Polymerase 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.


RESULTS
The C1494T mutation did not appear in all cases except for the positive control.


CONCLUSIONS
Incidence 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.
Department of Pediatrics, the First Affiliated Hospital, Peking University, Beijing, 100034 P. R. China.
Gu
G
Tian
Yu-he
YH
Liu
Yi-nan
YN
Ma
Yu-jie
YJ
Li
Ying
Y
Zhang
Shu-lan
SL
Niu
Yuf-eng
YE
Xu
Pei
P
Pei
Song-tao
ST
Wang
Ding-fang
DF
Bu
Bo-ran
BR
Du
Xiang
X
Zhou
Xiao-mei
XM
Ke
Yu
Y
Qi
D000293:Adolescent; D000617:Aminoglycosides / Q000009:adverse effects; D000900:Anti-Bacterial Agents / Q000009:adverse effects; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D034381:Hearing Loss / Q000139:chemically induced / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012335:RNA, Ribosomal / Q000235:genetics
D000617:Aminoglycosides; D000900:Anti-Bacterial Agents; D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S