基因芯片法检测遗传性耳聋相关基因

中国临床药理学与治疗学 ›› 2010, Vol. 15 ›› Issue (3): 317-321.

基因芯片法检测遗传性耳聋相关基因

赵钢涛, 杨凡, 许茜, 丁媛媛, 姜楠, 许景峰

北京军区总医院药理科,北京 100700

收稿日期:2010-01-08 修回日期:2010-03-17 发布日期:2020-10-14
作者简介:赵钢涛,女,硕士,主管药师,主要从事药物基因组学相关研究。Tel: 010-66721898 E-mail: xiaotiaohan@163.com

Related gene of hereditary deafness detection by gene array

ZHAO Gang-tao, YANG Fan, XU Qian, DING Yuan-yuan, JIANG Nan, XU Jing-feng

Department of Pharmacology, General Hospital of Beijing Military Command, Beijing 100700, China

Received:2010-01-08 Revised:2010-03-17 Published:2020-10-14

摘要/Abstract

摘要： 目的: 用基因芯片法检测与遗传性耳聋相关的4个基因,共9个位点的基因型。方法: 快速提取50名志愿者人血DNA标本,经PCR扩增后,将PCR产物在冰水混合物中进行变性,然后用基因芯片杂交并进行扫描,判断基因型。并对其中3个标本进行重复性实验。结果: 对50名志愿者,9个位点的基因型检测结果发现:共检测到9名志愿者,5个位点的杂合突变型:GJB2(235delC)杂合突变5名,GJB2(299delAT)杂合突变1名,SLC26A4(2168A>G)杂合突变1名,SLC26A4(IVS7-2 A>G)杂合突变1名,GJB3(538C>T)杂合突变1名。结论: 用基因芯片的方法能够快速准确地检测9个位点的基因型,并且重复性良好。结果: 表明各位点突变率较高,需要引起临床及广大患者的注意。

关键词: 遗传性耳聋, 基因芯片, 突变

Abstract: AIM: To detect the gene types of 4 genes, gsites which are relating to hereditary deafness by the method of gene array. METHODS: The DNA in the blood of 50 volunteers was extracted. The product of PCR was destructured in the mixture of ice and water. Then the product was hybridized on the gene array. At last the gene type was deduced after scanning. Three DNA samples were carried out for repeated test. RESULTS: 5 kinds of heterozygous mutation in gvolunteers by the experiment of gene type detection of 9 sites in 50 volunteers were detected. These 5 heterozygous mutations were: 5 mutations of GJB2(235delC), mutation of GJB2(299delAT), 1 mutation of SLC26A4(2168A>G), 1 mutation of SLC26A4(IVS7-2 A>G),1 mutation of GJB3(538C>T). CONCLUSION: The gene type of 9 sites was rapidly detected by the method of gene array exactly. And the reproducibility is fine. The results indicated the mutation rate was relatively high; attention should be emphasized on the clinic and patients.

Key words: Hereditary deafness, Gene array, Mutation

中图分类号:

R969

赵钢涛, 杨凡, 许茜, 丁媛媛, 姜楠, 许景峰. 基因芯片法检测遗传性耳聋相关基因[J]. 中国临床药理学与治疗学, 2010, 15(3): 317-321.

ZHAO Gang-tao, YANG Fan, XU Qian, DING Yuan-yuan, JIANG Nan, XU Jing-feng. Related gene of hereditary deafness detection by gene array[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2010, 15(3): 317-321.

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