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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo de Fragmento de Restrição
/
DNA Mitocondrial
/
RNA Ribossômico
/
China
/
Reação em Cadeia da Polimerase
/
Mutação Puntual
/
Povo Asiático
/
Etnologia
/
Genética
/
Aminoglicosídeos
Limite:
Adolescente
/
Criança
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2007
Tipo de documento:
Artigo
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