Deafness Gene Analysis Of129Patients With Non-syndromic Deafness In Taiyuan

Objective:the deafness gene chip is applyied to non-syndromic deafness patients for molecular etiology research. Provide theoretical guidance for the policy formulation and implementation of personalized prevention and treatment of deafness in the region.Method:The peripheral blood samples were collected and the DNA templates were extracted from the129non-syndromic deaf patients who are sporadic in schools for deaf-mutes and clinics, Taiyuan city, the deafness gene chip is applied to detecting GJB2, GJB3, of SLC26A4, mitochondrial DNA (mitochondrial mtDNA)12SrRNA hotspot mutations sites, the individual who carrying the SLC26A4mutation return visits and to row High resolution high resolution CT examination. Access to the type and frequency of common mutation in this population. Combined with a history of deafness, family history, amino glycosides application history and genetic screening results to analyze the cause of the deaf population. Analysis of the pathogenic point mutations or polymorphisms, predict who is drug-susceptible individuals, to give the medication guide missionary; who is cold, head trauma high-risk individuals, to give the missionary,intervention, treatment, and effective anti-deaf, deafness,reducing the rate of deafness onset.Results:In the129patients with Non-syndromic Deafness,41.09%(53/129) patients is related to genetic factors,(1) It was detected that26(20.16%) patients carried the GJB2gene mutation, in which,235delC homozygous mutations was found in9cases,235delC single hybrid mutation was found in8cases,299-300delAT with235delC compound heterozygous mutation was found in1cases,299-300delAT single heterozygous mutations was found in7cases,235delC and IVS7-2A> G double mutant was found in1cases, but the176de116bp and35delG mutation was not detected;(2)8cases (6.20%) carried the mitochondria gene1555A> G mutation;7cases carried the m.1555A>G] single hybrid mutation,1cases carried the compound heterozygous mutations:m.[1555A> G]+c.[919-2A> G];(3) theSLC26A4gene mutations were detected in21cases (16.28%).7cases carried the SLC26A4IVS7-2A> G homozygous mutations,11cases carried the IVS7-2A> G heterozygous mutations,3cases carried the2168A> G heterozygous mutation; in the deaf population, the GJB3gene mutation were not detected.Conclusion:In this survey the proportion of hereditary deafness is as high as41.09%among the Deafness group, the GJB2mutations is the most common causes in Genetic deaf people. The incidence of the SLC26A4mutations is the second most common cause. There is higher incidence of hereditary deafness in this survey the proportion; especially mitochondrial gene mutation rate and SLC26A4gene mutation rate is higher than the national average.