A Study On The Patients With Sensorineural Deafness Of GJB3Gene Mutations And Kidney Deficiency And Blood Stasis In Kazak And Uyghur In Xinjiang

Objective To detect gene mutations of GJB3in Uyghur and Kazak peoplewith non-syndromic hereditary hearing impairment,and to analyze therelationship between gene mutations and kidney asthenia blood stasis type.Methods195patients of non-syndromic hereditary hearing impairment,including96Kazak and99Uyghur,and207health adults,including104Kazakand103Uyghur were collected. all subjects caught collecting DNA wasextracted from peripheral blood by polymerase chain reaction (PCR). PCRproducts of GJB3were sequenced directly. Results Six kinds of basechanges were detected:357C>T（N119N）、798C>T（N266N）、580G>A（A194T）、250G>A（V84I）、 and94C>T（R32W）. The new variant94C>T(R32W). Where in250G> A was found in the control group， Themutations of357C>T and798C>T were the most frequent types ofpolymophism.580G>A and250G>A were found only in the Uyghur.798C> Tmutation sites between Uighur case group and control group comparison ofdifferences (P＜0.05). Kidney asthenia blood stasis type was58.5%in all ofpatients.The GJB3gene mutation is related to kidney asthenia blood stasis(P＜0.05). Conclusion GJB3gene mutation has racial diversify Newlydiscovered mutation and polymorphism of GJB3gene has enriched genemutation and polymorphism mapping in Chinese population,andlaid thefoundation for an in-depth genetic screening for deafness and the gene libraryin Xinjiang region.Kidney asthenia blood stasis type might be one of thereasons which leadto GJB2gene mutation in the Xinjiang region.