Objective: To study mutations in the GJB2 gene in Uyghur patients with nonsyndromic hearing impairment from Xinjiang.
Method: Forty-three cases with nonsyndromic hearing impairment and 46 adults with normal hearing were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing.
Result: Six kinds of mutation have been found in the encoding region of hearing impairment group: 380G>A, 109G>A, 235 delC, 233 delC, 7G0>A, 35 delG, of which one 235 delC case is heterozygotes mutation, two 233 delC are homozygotes mutation and two 35 delG are heterozygotes mutation. Six kinds of mutations have been found in the normal hearing group, of which 5 kinds are confirmed common polymorphic mutation.
Conclusion: The GJB2 gene mutation detection rate in the Uyghur deaf population of Xinjiang Province is lower than other province, which has ethnic and regional characteristics.