An Evaluation of the Mutations of Common Susceptive Genes Related Hearing Loss for 161 Patients in Liuzhou / 听力学及言语疾病杂志

ABSTRACT

Objective To investigate the epidemiological characteristics of three common susceptive gene retared hearing loss in the patients with the congenital deafness in Liuzhou.Methods 161 patients with congenital hearing loss were diagnosed with audiologic evolutions,including newborns and outpatients.The blood samples of all patients were taken for the extraction of DNA which was amplified by PCR.The common mutationsl hot spots of the mitochondrial DNA 12SrRNA,GJB2 and SLC26A4 were examined by restricted enzyme and directed sequencing.Results 1 case(0.62%)was found to carry mitoehondrial DNA 12SrRNA A1555G and 4 patients(2.48%)carried heterozygotes or homozygotes pathologic mutations of GJB2.10 patients(6.21%)were heterozygous carriers with pathologic mutations,IVS7-2 A>G,in the SLC26A4 gene.The detection rate of GJB2,mitochondrial DNA A1555G and SLC26A4 mutations in 161 patients were 9.31%.Conclusion The patients with congenital hearing loss distributed different minority groups in liuzhou zone.The mutational frequencies of the three common gene related hearing loss in the patients of Liuzhou were noticeably lower than the data reported in other regions in China.The gene screening for deafness was very important for early diagnosis and treatment.