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
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Polymorphisme de restriction
/
ADN mitochondrial
/
ARN ribosomique
/
Chine
/
Réaction de polymérisation en chaîne
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Mutation ponctuelle
/
Asiatiques
/
Ethnologie
/
Génétique
/
Aminosides
Limites du sujet:
Adolescent
/
Enfant
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2007
Type:
Article
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