Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 388-392, 2012.
Artigo
em Chinês
| WPRIM
| ID: wpr-295473
ABSTRACT
<p><b>OBJECTIVE</b>To screen for genetic mutations in families featuring non-syndromic hearing loss.</p><p><b>METHODS</b>Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire. Audiological and neurological examinations were conducted for all families. Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced.</p><p><b>RESULTS</b>Of the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation, 1 was 235 delC+299_300 delAT compound heterozygous mutation, and 6 were 79G>A+341G>A heterozygosis in cis mutation. No 1555A>G mutation of mitochondrial DNA (mtDNA) was found in the 16 families.</p><p><b>CONCLUSION</b>The incidence of mtDNA 12S rRNA 1555A>G mutation in Jiangsu province may be lower than the average across China. Mutations of GJB2 genes may account for as much as 64.7% of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
DNA Mitocondrial
/
RNA Ribossômico
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Conexinas
/
Predisposição Genética para Doença
/
Conexina 26
/
Genética
/
Perda Auditiva
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2012
Tipo de documento:
Artigo
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