中华耳科学杂志Issue(3)：541-544,4.DOI:10.3969/j.issn.1672-2922.2015.03.037
TaqMan探针熔解曲线技术检测GJB2基因突变
Diagnosis of hereditary deafess with GJB2 gene mutations based on TaqMan probe melting curve technology
摘要
Abstract
Objective To establish a quick and reliable TaqMan probe melting curve technology to be used for analyzing the GJB2 gene in patients with non-syndromic hearing impairment (NSHI). Methods Stan-dard samples were prepared to establish the TaqMan probe melting curve technology based on qPCR. Samples were then collected from 138 normal individuals, 113 patients and 2 families with NSHI to test 35delG,176_191del16, 235delC, 299_300delAT mutations of the GJB2 gene using the TaqMan probe melting curve technol-ogy. Test results were verified by direct DNA sequencing. Result Two of the 138 normal individuals, 22 of the 113 NSHI patients and both NSHI families were shown to carry GJB2 gene mutations. All results were consis-tent with those by direct DNA sequencing. Conclusion A quick and reliable TaqMan probe melting curve tech-nology has been established and shown to be capable of detecting 4 mutations of the GJB2 gene.关键词
遗传性耳聋/TaqMan探针/熔解曲线/GJB2基因Key words
hereditary deafness/TaqMan probe/melting curve/GJB2 gene分类
医药卫生引用本文复制引用
高慧,刘晶晶,沈姗姗,梁少明,危林耿,李芳芳,王沙燕..TaqMan探针熔解曲线技术检测GJB2基因突变[J].中华耳科学杂志,2015,(3):541-544,4.基金项目
2013年深圳市战略新兴产业发展专项资金 （）
