The Study Of GJB2 Mutation In Yi Ethnic People With Hereditary Nonsyndromic Hearing Loss Of Yunnan Province

Objective To determine the mutation situs and frequency in Yi ethnicpeople with hereditary nonsyndromic hearing loss ,and to contrast the difference of themutation situs and frequency between Yi ethnic and Han people . Methods To assembleYi ethnic people with sporadic congenital deafness or hereditary nonsyndromic hearingloss as study group. Han people with sporadic congenital deafness or hereditarynonsyndromic hearing loss and normal people including Yi ethnic and Han people wereselected as control group. The DNA of simples were abstracted by K.I method ,using thepolymerase chain reaction (PCR) amplified the exon of GJB2, then the fragments weresequenced . Results 79G-A (X~2 =7.953 P < 0.05 OR=7.714) had high mutation rate inpeople with hereditary nonsyndramic hearing loss, .It was not significant that thedifference of the homozygosity ratio between Yi ethnic and Han people with hereditarynonsyndramic hearing loss (P > 0. 05), but it was noticed that the homozygosity ratio of Yiethnic people (66.7%) has higher tendency than that of Han people(16.7%) . Addition, anew mutation position (56G-T) was found in the Han people with sporadic congenitaldeafness. Conclusion 79G-A of the GJB2 had high mutation rate in Yi ethnic and Hanpeople with hereditary nonsyndramic hearing loss, so we considered that the 79G-Amutation was significantly related with hereditary nonsyndramic hearing loss and thepurification ratio of Yi ethnic people has higher tendency than that of Han people .Addition, a new mutation position (56G-T) was found in Han people with sporadiccongenital deafness.