A Relative Study On The Patients With Non-syndromic Hereditary Hearing Loss Of GJB2 Gene Mutations And Kidney Deficiency And Blood Stasis In Uyghur And Han In Xinjiang

Objective:To detect gene mutations of GJB2 in Uyghur and Han people with non-syndromic hereditary hearing impairment,and to analyze the relationship between gene mutations and kidney asthenia blood stasis type. Method:83 patients of non-syndromic hereditary hearing impairment,including 43 Uyghur and 40 Han,and 98 health adults,including 46 Uyghur and 52 Han,were collected.The patients were differentiated into kidney asthenia blood stasis type and non-kidney asthenia blood stasis type,according to Traditional Chinese Mdecine Differentiation.The GJB2 of patients and normal persons were polymerse chain reaction(PCR),then the PCR products were subjected to automatic DNA sequencing. Results:Ten gene mutations were found in deafness group.The four mutations,235delC,233delC,35delG,71G-A,were disease caused mutation,which have 10.8% detected rate.The quantity of 233-235delC was six,the mutation rate of which is 7.23%,and 66.6% in the totle detected rate of disease caused mutation.71G-A,35delG were found only in the Uyghur deaf-mutes.Nine gene mutations were detected in control group.The mutations of 79G-A,109G-A,341G-A were the most frequent types of polymophism,and 196G-A,281A-G,21G-T were the newly discovered.The GJB2 mutation rate of Han is higher than Uyghur.Kidney asthenia blood stasis type was 38.6% in all of patients.The GJB2 gene mutation is related to kidney asthenia blood stasis(P<0.05). Conclusion:The hot spot of disease caused mutation of GJB2 is 233-235delC in patients with hereditary nonsyndromic hearing impairment in xinjiang region,but mutaional rate of which is lower than other reagions in China. GJB2 gene mutation has racial diversify Newly discovered mutation and polymorphism of GJB2 gene has enriched gene mutation and polymorphism mapping in Chinese population,and laid the foundation for an in-depth genetic screening for deafness and the gene library in Xinjiang region. Kidney asthenia blood stasis type might be one of the reasons which lead to GJB2 gene mutation in the Xinjiang region.