Study on Mutation of Connexin30 Gene in Children with Prelingual Deafness
- VernacularTitle:语前聋患儿连接蛋白30基因突变
- Author:
si-qing, FU
;
guan-ming, CHEN
;
jia-shu, DONG
- Publication Type:Journal Article
- Keywords:
prelingual deafness;
connexin30 gene;
mutation
- From:Journal of Applied Clinical Pediatrics
2006;0(16):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To determine the prevalence and characteristics of the del(GJB6-D13S1830) in Connexin30(Cx30) gene in children with prelingual deafness.Methods Forty-six prelingual deaf children and 30 children with normal comprehension were obtained,and the del(GJB6-D13S1830)in the Cx30 gene were screened by polymerase chain reaction(PCR) in 2 groups.Results Three cases of 46 deaf children were found to have heterozygous del(GJB6-D13S1830) in Cx30 gene.The rest deaf children and the normal controls did not harbor this deletion.Conclusion The heterozygous del(GJB6-D13S1830) in Cx30 gene is one of causes of prelingual deafness.
