[Study on nonsyndromic hereditary hearing impairment mutations of GJB2 gene in Uyghur patients in Xinjiang].

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.