The Study Of Deafness Molecular Epidemiology In Zhanjiang, Guangdong And Fast Diagnosing Method For Hereditary Deafness

ObjectiveTo study molecular etiology of hereditary hearing-loss in Zhanjiang, Guangdong province of South China, to make the gene screening more targeted, improve the detection rate and to establish a simple, faster, cheaper method on the base of high sensitive and specific for the diagnosing of hereditary hearing loss.MethodsRecruited 362 whole blood samples of Hearing-loss patients from special school in Zhanjiang Guangdong province, chose 16 mutants which included nine hot spots of china and seven other deafness mutants, Using multiplex Taqman QT-PCR to screen the 16 spots of all the samples, then sequenced some of the tested samples to verify the specificity and sensitivity of multiplex Taqman QT-PCR. Then we analyzed the statistics with Chi-Square.ResultsFinished the screening of 9 domestic deafness hot spots(GJB2: 35delG,235delC,299-300delAT,176-19deAT; GJB3:538C>T; SLC26A4:919-2A>G, 2168A>G; MTDNA12srRNA:1555A>G,1494C>T) and seven other deafness mutants(GJB2:109G>A, OTOF:5098G>C:TMC1:100C>T:WFS1:2158A>G,2146G>A,2596G>A ;KCNQ4:827G>C) with the Taqman QT-PCR. There are nine mutants in all samples. GJB2:235delC(6.08%),299-300delAT(0.83%),109G>A(1.38%);SLC26A4:919-2A>G(5.25%),2168A>G(1.1%);MTDNA12srRNA:1555A>G(3.59%),1494C>T(1.1%);WFS1 :2158A>G(8.84%);OTOF:5098G>C(1.93%).35delG,176-191del16,538C>T,100C>T,214 6G>A,2596G>A,827G>C are not detected out in the patients. At last, we established the Taqman QT-PCR for the diagnosing of hereditary hearing-loss.ConclusionThe detection rates of domestic deafness hot spots in Zhanjiang, Guangdong province of South China are different with the equal detections of the whole country.235delC and 919-2A>G have significantly lower detection rates. Besides, among the seven other deafness mutants,2158A>G and 5098G>C which are associated with AN have higher detection rate, this 2158A>G has the highest detection rates in all the detected spots, they must be involved in when screening the hearing-loss patients of Zhanjiang. Multiplex Taqman QT-PCR is a faster, cheaper, and higher sensitive method for the molecular etiology diagnosing of hearing loss.