[Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China].

ABSTRACT

OBJECTIVE: To investigate the prevalence of GJB2 mutations in Uigur and Han ethnic groups in Xinjiang Uigur Autonomous Region, China and to understand the mutation spectrum and frequency of the GJB2 gene in these 2 ethnic groups. METHODS: Questionnaire survey was conducted among 61 Uigur deaf-mute students, 60 Han deaf-mute students, and 98 normal Uigurs and 301 normal Han people as controls. Peripheral blood samples were collected to undergo PCR and sequencing of GJB2 gene. RESULTS: The GJB2 mutation rate of the Uigur deaf-mute students was 19.7%, not significantly different from that of the Han deaf-mute students (17.2%). GJB2 35delG was found only in the Uigur deaf-mutes with a carrier rate of 11.5%, whereas 235delC was identified in both Uigur and Han deaf-mutes. The allelic frequency of 35delG mutation in the Uigur and Han deaf-mutes and the Uigur controls were 7.4% (9/122), 0 (0/128), and 0 (0/196) respectively. The allelic frequencies of the GJB2 235delC mutations in the Uigur and Han deaf-mute students were 5.7% and 9.8%, and the allelic frequencies of 299 - 300delAT were 0.8% and 5.5%. V27I and E114G were the most frequent types of polymorphism. CONCLUSION: There is a rather high mutation rate of GJB2 gene in Xinjiang. The carrier frequency of 35delG of the Uigurs is significantly higher than that of the Han population. 235delC is common in both Uigur and Han people.