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Chinese Journal of Medical Genetics ; (6): 464-466, 2007.
Artigo em Chinês | WPRIM | ID: wpr-247291

RESUMO

<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>


Assuntos
Adolescente , Criança , Feminino , Humanos , Masculino , Aminoglicosídeos , Antibacterianos , Povo Asiático , Genética , China , DNA Mitocondrial , Genética , Perda Auditiva , Etnologia , Genética , Mutação Puntual , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , RNA Ribossômico , Genética
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