ABSTRACT
OBJECTIVE@#To study mutations in the GJB2 gene in Kazak patients with nonsyndromic hearing impairment from Xinjiang.@*METHOD@#One hundred and ninety-three cases of Kazak from the Xinjiang region, including 97 cases of hearing loss and 96 cases of normal people, were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing.@*RESULT@#Eight kinds of mutation were found in the encoding region of hearing impairment group:12 cases of 35 delG homozygous, 5 cases of 79G>A homozygous, 8 cases of 79G>A heterozygous, 1 case of 79G>A heterozygous and 608T>C heterozygous, 5 cases of 79G>A heterozygous and 341A>G heterozygous, 4 cases of 235 delC heterozygous, 2 cases of 341A>G heterozygous, 1 case of 439T>G heterozygous, 1 cases of 457G> A heterozygous, 2 cases of 521G>A homozygous. Four kinds of mutations found in the normal group were confirmed as common polymorphic mutation.@*CONCLUSION@#The study suggests that the GJB2 gene mutation of the Kazak deaf population in Xinjiang has ethnic and regional characteristics. There is a rather high carrier frequency of GJB2 mutation of Kazak patients in Xinjiang. In this study the 35 delG mutation is a common mutation of Kazak patients.