SLC26A4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

目的通过检测耳聋患者DNA,探讨遗传性耳聋患者SLC26A4基因常见突变类型。方法选取2012年1月—2014年5月于哈尔滨医科大学附属第四医院进行检查的遗传性耳聋患者60例为研究对象。采集患者外周血3-5 ml,应用试剂盒提取DNA,使用E-Cycler TM96 PCR仪进行DNA扩增。行琼脂糖凝胶电泳,回收PCR产物,进行序列分析和比对。结果研究共发现SLC26A4基因突变患者11例,检出SLC26A4基因9个突变类型,涉及11-17号和19号外显子的改变,IVS7-2A〉G为最常见突变类型。纯合突变1例,余10例为杂合突变。结论 SLC26A4基因突变所致遗传性耳聋患者突变类型主要为IVS7-2A〉G,其次是2168A〉G。

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 exons11- 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 2168 A 〉G.