Molecular epidemiological study of GJB2 mutations in the prelingual deafness in northwestern China / 解放军医学杂志

ABSTRACT

Objective To investigate the molecular epidemiology of GJB2 mutations as a causative effect of prelingual deafness in northwestern China. Methods The medical history of 274 deaf-mute students was collected. Blood samples were obtained from them with informed consent. GJB2 gene sequences of genomic DNAs were amplified by polymerase chain reaction (PCR) with a pair of primers, and bidirectional sequencing of PCR products was performed and analyzed with DNAStar Software. Results A total number of 274 deaf-mute students were diagnosed as non-syndromic hearing impairment, and profound prelingual deafness. Two kinds of polymorphism, seven pathologic mutations and one novel mutation were revealed in the GJB2 screenings of them, and 79G→A and 341A→G were polymorphism with high frequency. Conclusion GJB2 gene mutation is the causative gene in the prelingual deafness with a high incidence of 10.95% in northwestern China. Based on the investigation, it is clear that screening of GJB2 gene mutation should play a significant role in early diagnosis of deaf-mutism in this region.