Analysis on mutations of GJB2 gene in Chinese population / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 441-443, 2003.
Artigo
em Chinês
| WPRIM
| ID: wpr-329439
ABSTRACT
<p><b>OBJECTIVE</b>To determine the prevalence and types of GJB2 mutations and to investigate the genetic mechanism in Chinese autosomal recessive deafness.</p><p><b>METHODS</b>The subjects were four Chinese pedigrees (39 individuals) and 50 normal adults. GJB2 was amplified by PCR. The products were digested with restriction enzyme Apa I, then sequenced.</p><p><b>RESULTS</b>Homozygous deletion C at position 232-235 of GJB2 (235delC),which resulted in frameshift mutation, was found in four affected individuals of two pedigrees; the compound heterozygous deletions (235delC/232G to A) were found in two affected individuals in one pedigree. One carrier with 235delC was found in normal controls (1% allele). Two kinds of polymorphisms 79G to A(V27I) and 3 41A to G(E114G) were found in both affected and normal controls. The frequencies of allele for 79G to A and 341A to G in normal controls were 30%, 21%, respectively.</p><p><b>CONCLUSION</b>235delC mutation of GJB2 was related with Chinese autosomal recessive deafness, and the 232G to A(Ala78Thr) missense mutation was found to be a novel mutation.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
DNA
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Química
/
China
/
Saúde da Família
/
Deleção de Sequência
/
Conexinas
/
Mutação de Sentido Incorreto
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2003
Tipo de documento:
Artigo
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