Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 464-466, 2007.
Article
in Chinese
| WPRIM
| ID: wpr-247291
ABSTRACT
<p><b>OBJECTIVE</b>To conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>The C1494T mutation did not appear in all cases except for the positive control.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Restriction Fragment Length
/
DNA, Mitochondrial
/
RNA, Ribosomal
/
China
/
Polymerase Chain Reaction
/
Point Mutation
/
Asian People
/
Ethnology
/
Genetics
/
Aminoglycosides
Limits:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2007
Type:
Article
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