[1]韩光宇,徐 湛,李全双,等.DNA微阵列芯片法检测遗传性耳聋基因[J].现代检验医学杂志,2016,31(04):47-50.[doi:10.3969/j.issn.16717-414.2016.04.012]
 HAN Guang-yu,XU Zhan,LI Quan-shuang,et al.Detection of Hereditary Hearing Loss Gene by DNA Microarray[J].Journal of Modern Laboratory Medicine,2016,31(04):47-50.[doi:10.3969/j.issn.16717-414.2016.04.012]
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DNA微阵列芯片法检测遗传性耳聋基因()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第31卷
期数:
2016年04期
页码:
47-50
栏目:
论著
出版日期:
2016-08-10

文章信息/Info

Title:
Detection of Hereditary Hearing Loss Gene by DNA Microarray
文章编号:
1671-7414(2016)04-047-04
作者:
韩光宇1徐 湛1李全双1沈红艳1张 巍2梁 军3
1.徐州市医学科学研究所,江苏徐州 221006;
2.徐州市急救医疗中心,江苏徐州 221009;
3.徐州市中心医院,徐州市糖尿病研究所,江苏徐州 221000
Author(s):
HAN Guang-yu1XU Zhan1LI Quan-shuang1SHENHong-yan1ZHANG Wei2LIANG Jun3
1.Xuzhou Institute of Medical Sciences,Jiangsu Xuzhou 221006,China;
2.Xuzhou Emergency Medical Center,Jiangsu Xuzhou 221009,China;
3.Xuzhou Central Hospital,Xuzhou Institute of Diabetes,Jiangsu Xuzhou 221000,China
关键词:
耳聋 基因芯片 基因突变 携带者
分类号:
R764.43; Q754
DOI:
10.3969/j.issn.16717-414.2016.04.012
文献标志码:
A
摘要:
目的 应用基因芯片技术对临床散发性耳聋患者进行基因检测,评价在临床检测中的应用价值。方法 抽取患者静脉血,EDTA抗凝,在万级洁净间内进行DNA提取和PCR扩增杂交,对中国人常见的4个耳聋基因的9个突变位点进行检测。结果 24例患者中,共检出突变7例,阳性率为29.17%,检出GJB2基因突变4例(16.67%),其中176 del 16位点杂合突变型1例,235 del C位点纯合突变型1例,299 del AT位点杂合突变型2例。1例(4.17%)SLC26A4基因IVS7-2A>G位点杂合突变型; 2例(8.33%)线粒体12SrRNA基因1555A>G位点均质突变型,未检出GJB3基因突变。结论 遗传性耳聋基因芯片技术可快速、高通量检出耳聋相关突变位点,满足临床耳聋基因检测需求。
Abstract:
Objective To screen genes in patients with clinically sporadic deafness using DNA microarray and evaluate the application valuein the clinical detection.Methods Patient's venous blood was drawn up and EDTA for anticoagulation was added in.DNA extraction and PCR amplification were carried out in a myriad class clean room.Four deaf genes and 9 mutation sites commonly seen in Chinese people were tested.Results Among 24 patients,7 patients have mutations,with a positive rate of 29.17%,including 4 patients with GJB2 gene mutation(16.67%)of which 1with 176 del 16 site heterozygous mutation; 1 with 235 del C site homozygous mutation; 2 with 299 del AT site heterozygous mutation; 1 with SLC26A4 gene IVS7-2A>G site heterozygous mutation(4.17%),2 with mitochondrion 12SrRNA gene 1555A>G site homogeneous mutation(8.33%).No GJB3 gene mutation was detected.Conclusion Hereditary hearing loss-related mutation sites can be fast,high throughput screening by DNA microarray which meets the demandsof deaf gene detection.

参考文献/References:

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备注/Memo

备注/Memo:
基因基金项目:徐州市社会发展项目KC15SH090。
作者简介:韩光宇(1975-),男,本科,副主任技师、副研究员,主要从事临床检验和肿瘤生物治疗的实验研究工作,Tel:0516-85796056,E-mail:mrxzhgy@163.com。
通讯作者:梁 军,主任医师,硕士生导师,E-mail:mwlj521@163.com。
更新日期/Last Update: 2016-08-10