Study on Mutation of Connexin30 Gene in Children with Prelingual Deafness / 实用儿科临床杂志

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.