Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 64-67, 2002.
Artigo
em Chinês
| WPRIM
| ID: wpr-245361
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the genetic mechanism of maternal nonsyndromic inherited sensorineural hearing loss(SNHL), to identify the incidence of the 7445(G) mutation in such pedigrees and sporadic patients with SNHL, and to provide the theoretical evidence for the diagnosis of this disease.</p><p><b>METHODS</b>Blood samples were obtained from 2 pedigrees and 14 sporadic patients with SNHL. DNA was extracted from the isolated leukocytes. The mitochondrial DNA (mtDNA) fragments were amplified by PCR. The 1555(G), 3243(G) and 7445(G) mutation was detected by Alw 26 I, Apa I and Xba I restriction endonuclease digestion respectively. The sequence of 12S rRNA, tRNA(Leu(UUR)) and tRNA(Ser(UCN)) was examined.</p><p><b>RESULTS</b>Restriction endonuclease digestion analysis showed that 12 individuals from 2 pedigrees carried homoplasmic 7445(G) mutation, which was of maternal inheritance. Six individuals from 2 pedigrees and 14 sporadic patients did not have 7445(G) mutation. All individuals did not have 1555(G) and 3243(G) mutation. The sequence analysis further showed that none of them carried homoplasmic 1555(G) and 3243(G) mutation, 12 individuals had (nt)7445 A--> G substitution in tRNA(Ser(UCN)) gene.</p><p><b>CONCLUSION</b>The incidence of 7445(G) mutation in such pedigrees is higher than that in sporadic patients. Screening for mtDNA 7445(G) mutation combined with 1555(G) examination is of much value to clinical use.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
DNA Mitocondrial
/
Análise Mutacional de DNA
/
RNA de Transferência de Serina
/
Mutação Puntual
/
Genética
/
Perda Auditiva Neurossensorial
/
Métodos
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2002
Tipo de documento:
Artigo
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