ABSTRACT
<p><b>OBJECTIVE</b>To investigate the frequency of the mutations in Uyghur nonsyndromic deafness groups in Kashgar region of Xinjiang province by means of screening the common mutations of known deafness genes in China.</p><p><b>METHODS</b>One hundred and seventy-four Uyghur patients with hearing loss were involved in this study. Questionnaire survey was conducted and peripheral blood samples were collected for polymerase chain reaction. Screening was performed for 35delG, 176-191del16, 235delC, 299-300delAT, 1555A > G, 1494C > T, 2168A > G and IVS7-2A > G. DNA sequence analysis was performed for the samples with absent signals at some loci. SPSS 17.0 software was used to analyze the data.</p><p><b>RESULTS</b>Mutation of GJB2 was the most common among the three known deafness genes. 187delG was found for the first time in Uyghur groups with hearing loss and was a new pathological mutation of GJB2. The mutation rate of SLC26A4 was low in the experimental group with no significant difference when compared with the control group. The mtDNA 12S rRNA mutation rate in the deaf group was low but not detected in the control group. In addition, mutations were not detected in 17 cases among the 20 patients with positive family history.</p><p><b>CONCLUSION</b>The mutation rate and dominant mutation of Uyghur ethnic nonsyndromic deaf groups have their own characteristics, it is necessary to conduct a sequence analysis and a stemma studying for an aim of perfecting the mutation spectrum of Uyghur deafness gene.</p>