FMCA技术分析大前庭水管综合征家系及产前诊断

发布时间：2018-01-10 09:08

本文关键词：FMCA技术分析大前庭水管综合征家系及产前诊断　出处：《中华耳科学杂志》2015年03期 　论文类型：期刊论文

【摘要】：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IVS7-2AG(919-2AG),2168AG及1229CT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IVS7-2AG/1229CT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IVS7-2AG,2168AG与1229CT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。
[Abstract]:Objective to detect the SLC26A4 gene of bilateral vestibular aqueduct enlargement pedigree by FMCA technique. To investigate the relationship between vestibular aqueduct enlargement and SLC26A4 gene and the optimal conditions of FMCA technique. Methods Clinical data of EVA families were collected and based on fluorescence quantitative PCR fusion curve platform. The SLC26A4 gene IVS7-2AG919-2AG919-2AG was analyzed by FMCA technique in 107 normal subjects and 19 members of 6 EVA families. 2168AG and 1229CT mutation sites were confirmed by direct sequencing. Results SLC26A4 gene heterozygosity was found in 2 out of 107 normal subjects with a mutation rate of 1.87. There were 3 SLC26A4 gene homozygous mutations and 3 SLC26A4 gene heterozygosity mutations in EVA pedigree and 10 SLC26A4 gene heterozygosity mutations. The mutation rate of SLC26A4 gene in 3 cases without SLC26A4 gene mutation was 84.21. Prenatal diagnosis was performed on pedigree a. The result was IVS7-2AG/1229CT complex heterozygous mutation, all the results were consistent with the sequencing results. Conclusion FMCA platform can quickly detect the mutation of IVS7-2AGN 2168 AG and 1229CT in SLC26A4 gene, and its operation is simple. The results are accurate and can be used as a rapid and effective method for the diagnosis of hereditary diseases and prenatal diagnosis.
【作者单位】：暨南大学第二临床医学院深圳市人民医院;亚能生物技术(深圳)有限公司;
【基金】：2013年深圳市战略新兴产业发展专项资金(CXZZ20130517143111780)
【分类号】：R714.5;R764.43
【正文快照】： 耳聋是人类生活中常见的疾病,2006年第二次残疾人抽样调查数据显示,我国听力残疾达2004万,占残疾人总人数的24.16%[1],前庭水管扩大(En-large Vestibular Aqueduct,EVA)是一种常见的与感音神经性耳聋相关的内耳畸形[2],1996年Griffith[3]首次描述前庭水管扩大的家族遗传性,随

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