OBJECTIVETo determine the prevalence of a common GJB2 mutation in a big Chinese population of deaf children and the features of its distribution in regions all over the nation and to provide epidemiology data and expertise for genetic testing of deafness in China.

METHODSThe DNA samples of NSHI patients and normal controls were collected from different typical areas of China. The method of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with ApaI was used to determine the genotype of GJB2 235 site.

RESULTSTotally 16.3% of patients carried at least one 235 delC mutant allele. Among them, 7.8% was homozygous and 8.5% was heterozygous. The prevalence of GJB2 235delC mutation in China was evident, and the significant difference of 235delC mutation frequency was found in sub-population from different areas and different ethnic groups.

CONCLUSIONSBased upon the result of this screening as stated, Chinese NSHI patients appear to have 235delC frequency and the number of GJB2 related deafness was estimated to be huge. The testing of GJB2 235delC mutation would play an important role in genetic diagnosis and screening in China. As high as 15% of patients could be diagnosed as GJB2 caused deafness (bi-allelic mutation) only by means of this simple, fast and economic assay. In addition, patients were negative for 235delC mutation would be candidates for further mutational analysis of GJB2 or other deafness related genes.