中国全科医学2016，Vol.19Issue(8)：979-981,3.DOI:10.3969/j.issn.1007-9572.2016.08.025
SLC26 A4基因突变所致遗传性耳聋患者突变类型研究
SLC26A4 Gene Mutation Types of Patients With Hereditary Deafness
摘要
Abstract
Objective To investigate common SLC26A4 gene mutation types of patients with hereditary deafness by DNA detection.Methods A total of 60 patients with hereditary deafness who visited the Fourth Affiliated Hospital of Harbin. Methods University from January 2012 to May 2014 were enrolled.A blood sample of 3-5 ml peripheral blood was taken from each patient.DNA was extracted from peripheral blood by kit and was amplified by E-Cycler TM96 PCR Amplifier, and PCR products were recycled by Agarose gel electrophoresis.Then DNA sequence analysis and alignment were conducted.Results Among all the subjects, 11 patients with SLC26A4 gene mutations were found and 9 mutation types involving the changes of exons 11-17 and 19 were detected.IVS7-2A>G was the most common type.There was one case of homozygous mutation, and the rest 10 cases were all heterozygous mutation.Conclusion The most common SLC26A4 gene mutation type of patients with hereditary deafness is IVS7-2A>G, followed by 2168A>G.关键词
听觉丧失/遗传性疾病/基因突变/SLC26A4基因Key words
Hearing loss/Genetic diseases/Gene mutation/SLC26A4 gene分类
医药卫生引用本文复制引用
张笑千,王睿,刘畅,周健,李丽,徐飞飞,曲学华,李胜波..SLC26 A4基因突变所致遗传性耳聋患者突变类型研究[J].中国全科医学,2016,19(8):979-981,3.基金项目
黑龙江省自然科学基金资助项目( D201068） （）
