A Study On The Patients With Nonsyndromic Hearing Impairment Of GJB2Gene Mutations And Kidney Deficiency And Blood Stasis In Kazak And Uyghur In Xinjiang

Objective:To detect gene mutations of GJB2in Uyghur and Kazak people with non-syndromic hearing impairment,and to analyze the relationship between gene mutations and kidney asthenia blood stasis type. Method:Survey respondents from the Xinjiang region including185cases of Uyghur(92cases of patients with hearing loss and93normal people)and193cases of Kazak(97cases of patients with hearing loss and96normal people)all subjects were performed mutational analysis of the GJB2coding region by PCR-direct sequencing. The patients were differentiated into kidney asthenia blood stasis type and non-kidney asthenia blood stasis type, according to Traditional Chinese Medicine Differentiation.Results:Found in14cases of Kazak patients carry GJB2pathogenic mutations:3cases of35delG,8cases of235delC,3cases of71G> A;49cases of kidney asthenia blood stasis type. Found in16cases of Kazak patients carry GJB2pathogenic mutations:13cases of35delG mutation,3cases of235delcC mutation;55cases of kidney asthenia blood stasis type. Conclusion:This study suggests that the GJB2gene mutation detection rate in the Uyghur and Kazak deaf population of Xinjiang has ethnic and regional characteristics.GJB2mutation rate showed high distribution in kidney asthenia blood stasis type.Body in the state of kidney asthenia blood stasis may cause differences in GJB2gene mutations.