CAJ | 학술논문

目的：应用FMCA技术检测双侧前庭水管扩大家系SLC26A4基因，探讨前庭水管扩大与SLC26A4基因的关系及FMCA技术最优条件。方法收集EVA家系临床资料，基于荧光定量PCR熔解曲线平台，运用FMCA技术分析107例正常人，6个EVA家系19位成员的SLC26A4基因IVS7-2A>G（919-2A>G），2168A>G及1229C>T突变位点。并用直接测序技术予以验证。结果107例正常人中有2例SLC26A4基因杂合突变，突变率为1.87%；EVA家系中有3例SLC26A4基因纯合突变，3例SLC26A4基因复合杂合突变，10例SLC26A4基因杂合突变，3例无SLC26A4基因突变， SLC26A4基因突变率为84.21%。对家系a进行产前诊断，结果为IVS7-2A>G/1229C>T复合杂合突变。所有检测结果与测序结果一致，符合率为100%。结论 FMCA平台能快速检测SLC26A4基因的IVS7-2A>G，2168A>G与1229C>T突变，其操作简单，成本低。且经测序技术验证，结果准确。可作为诊断遗传性疾病及产前诊断的快速有效方法。
목적：응용FMCA기술검측쌍측전정수관확대가계SLC26A4기인，탐토전정수관확대여SLC26A4기인적관계급FMCA기술최우조건。방법수집EVA가계림상자료，기우형광정량PCR용해곡선평태，운용FMCA기술분석107례정상인，6개EVA가계19위성원적SLC26A4기인IVS7-2A>G（919-2A>G），2168A>G급1229C>T돌변위점。병용직접측서기술여이험증。결과107례정상인중유2례SLC26A4기인잡합돌변，돌변솔위1.87%；EVA가계중유3례SLC26A4기인순합돌변，3례SLC26A4기인복합잡합돌변，10례SLC26A4기인잡합돌변，3례무SLC26A4기인돌변， SLC26A4기인돌변솔위84.21%。대가계a진행산전진단，결과위IVS7-2A>G/1229C>T복합잡합돌변。소유검측결과여측서결과일치，부합솔위100%。결론 FMCA평태능쾌속검측SLC26A4기인적IVS7-2A>G，2168A>G여1229C>T돌변，기조작간단，성본저。차경측서기술험증，결과준학。가작위진단유전성질병급산전진단적쾌속유효방법。
Objective To report applications of the FMCA technology for testing the SLC26A4 gene in families with bilateral enlarged vestibular aqueduct (EVA) to analyze relations between EVA and SLC26A4 and to determine conditions for optimization of the FMCA technology. Methods Clinical data of EVA families were collected. IVS7-2A>G, 2168A>G, 1229C>T mutations of the SLC26A4 gene in 107 normal controls and 19 subjects from 6 EVA families were analyzed by FMCA technology and results were confirmed with direct DNA sequencing. Results Heterozygous mutations of SLC26A4 were detected in 2 subjects among the 107 normal controls (1.87%). In the EVA families, homozygous mutations of the SLC26A4 gene was detected in 3 subjects, compound heterozygous mutations in 3 subjects and simple heterozygous muta-tions in 10 subjects (84.21%), and 3 subjects showed no mutations. The technology was used in prenatal diagnosis in one family and showed IVS7-2A>G/1229C>T compound heterozygous mutations of the SLC26A4 gene. All results were consis-tent with DNA sequencing. Conclusion Our study shows that FMCA can quickly detect IVS7-2A>G, 2168A>G, 1229C>T mutations of the SLC26A4 gene. Backed by DNA sequencing, our results indicate that FMCA can be used as a fast, econom-ic and effective method in diagnosis of genetic diseases and in prenatal diagnosis.