CAJ | 학술논문

目的：建立快速可靠的TaqMan探针熔解曲线技术，分析非综合征型遗传性耳聋患者的GJB2基因及探讨TaqMan探针熔解曲线技术。方法制备标准品，利用TaqMan探针基于荧光PCR熔解曲线平台建立熔解曲线分析技术；收集138例正常人群、113例非综合征型遗传性耳聋患者及2个非综合征型遗传性耳聋家系，应用TaqMan探针熔解曲线技术分析GJB2基因最常见的35delG，176_191del16，235delC，299_300delAT的4个突变位点；结果利用直接测序技术加以验证。结果138例正常人群中检出2例GJB2基因突变，113例非综合征型遗传性耳聋患者中检出22例GJB2基因突变，2个耳聋家系先证者均为GJB2基因突变患者；所有检测结果均与测序结果一致。结论利用TaqMan探针建立了一种快速可靠的探针熔解曲线技术，经测序验证能准确的检测GJB2基因常见的4种突变。
목적：건립쾌속가고적TaqMan탐침용해곡선기술，분석비종합정형유전성이롱환자적GJB2기인급탐토TaqMan탐침용해곡선기술。방법제비표준품，이용TaqMan탐침기우형광PCR용해곡선평태건립용해곡선분석기술；수집138례정상인군、113례비종합정형유전성이롱환자급2개비종합정형유전성이롱가계，응용TaqMan탐침용해곡선기술분석GJB2기인최상견적35delG，176_191del16，235delC，299_300delAT적4개돌변위점；결과이용직접측서기술가이험증。결과138례정상인군중검출2례GJB2기인돌변，113례비종합정형유전성이롱환자중검출22례GJB2기인돌변，2개이롱가계선증자균위GJB2기인돌변환자；소유검측결과균여측서결과일치。결론이용TaqMan탐침건립료일충쾌속가고적탐침용해곡선기술，경측서험증능준학적검측GJB2기인상견적4충돌변。
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.