新疆维吾尔族耳聋患者mtDNA12SrRNA基因A1555G及A827G突变的研究  

A Study of Mitochondrial 12SrRNA Gene A1555G and A827G Mutation in Uygur People with Deafness

作　　者：徐红霞 盛国强 李彦华 Xu Hongxia;Sheng Guoqiang;Li Yanhua(Traditional Chinese Medicine Hospital of Xinjiang Uygur Autonomous Region,Urumqi,830054,China)

机构地区：[1]新疆维吾尔自治区中医医院耳鼻咽喉科

出　　处：《听力学及言语疾病杂志》2019年第5期469-471,共3页Journal of Audiology and Speech Pathology

基　　金：国家自然科学基金地区项目(30860358)

摘　　要：目的探讨新疆维吾尔族感音神经性聋患者中mtDNA12SrRNA基因突变的发生率。方法抽取120例新疆维吾尔族感音神经性聋患者(耳聋组)及100例维吾尔族健康对照者(对照组)外周血提取基因组DNA,进行mtDNA 12SrRNA基因PCR扩增,产物通过基因测序,进行突变检测和分析。结果所有研究对象的基因区域均扩增成功,mtDNA12SrRNA全序列检测发现耳聋组中共检出9例突变患者,其中mtDNA 12SrRNA A1555G突变5例,检出率为4.17%(5/120),961delT 1例,961insC 1例,A827G转换2例;对照组中发现A827G转换1例。结论本组新疆维吾尔族感音神经性聋患者线粒体DNA 12SrRNA A1555G突变检出率为4.17%,mtDNA 12SrRNA A827G转换是良性突变还是致病突变有待进一步研究。Objective To investigate the relationship of associating mitochondrial DNA 12 SrRNA gene mutations with hearing loss of Uygur people in Xinjiang.Methods The diagnosis was validated by hearing tests.Blood samples were collected from 120 sensorineural deafness and 100 healthy people.DNA was extracted from the leukocytes in blood samples.The gene fragments of mitochondrial DNA 12 SrRNA were amplified by polymerase chain reaction(PCR).PCR products were analyzed by sequencing.Results The target gene fragments of all individuals were successfully amplified by PCR.It was found that 12 SrRNA A1555 G in five cases,with 4.17%detection rate(5/120),961 delT in one case,961 insC in one case,A827 G in two cases of the deaf group,and A827 G in one case of control group.Conclusion The detection rate of mitochondrial DNA 12 SrRNA A1555 G mutation in Xinjiang Uygur patients with sensorineural deafness was 4.17%.Whether the transformation of mtDNA 12 SrRNA A827 G is a benign mutation or a tumorigenic mutation remains to be further studied.

关 键 词：线粒体DNA 基因突变 非综合征型感音神经性聋 

分 类 号：R764.44[医药卫生—耳鼻咽喉科]