FMCA技术分析大前庭水管综合征家系及产前诊断

Application of FMCA in families with enlarge vestibular aqueduct and in prenatal diagnosis

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。

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. IVS7-2AG, 2168AG,1229CT 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 mutations in 10 subjects（84.21%）, and 3 subjects showed no mutations. The technology was used in prenatal diagnosis in one family and showed IVS7-2AG/1229CT compound heterozygous mutations of the SLC26A4 gene. All results were consistent 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, economic and effective method in diagnosis of genetic diseases and in prenatal diagnosis.