Analysis on mutations of GJB2 gene in Chinese population / 中华医学遗传学杂志

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>