外显子捕获测序技术用于室间隔缺损胎儿遗传学病因检测
发布时间：2018-08-26 18:13
【摘要】：目的:探讨外显子捕获-高通量测序技术检测室间隔缺损(VSD)胎儿遗传学病因的可行性。方法:选择超声心动图诊断为VSD且微阵列比较基因组杂交(a CGH)和G显带检测结果均正常的19例胎儿作为研究对象;将已知的63个人类先心病致病基因作为检测靶点制作成捕获芯片,对各个样本DNA进行外显子捕获后高通量测序,数据经过滤、数据库比对、生物学软件分析得到最终病理性突变位点;病理性突变位点用Sanger测序验证。结果:19例VSD胎儿中共检测到1540个基因突变位点,数据库比对、生物信息学分析后得到8个病理性突变位点:JAG1 c.1078TG(p.C360G),CHD7 c.6718GT(p.D2240Y),NOTCH2c.6131GA(p.R2044H),MYH7 c.77CT(p.A26V),ZFPM2 c.2107AC(p.M703L),CHD7 c.7198CT(p.R2400W),HAND2 c.341GA(p.S114N),MLL2 c.12140_12168del GGCCGTTAGCAATAGGAACTACCCCTGAG(p.G4047Vfs*5),其中MYH7、ZFPM2两个突变点为已报道突变,其余6例未见报道。8个突变位点的Sanger测序结果与高通量测序结果一致。父母溯源分析均为新发突变。结论:外显子捕获芯片用于VSD胎儿遗传学检测可提高阳性检出率,具有较好的临床应用价值。
[Abstract]:Objective: to investigate the feasibility of detecting fetal genetic etiology of ventricular septal defect (VSD) by exon capture-high-throughput sequencing. Methods: nineteen fetuses diagnosed as VSD by echocardiography and whose microarray comparative genomic hybridization (a CGH) and G-banding results were normal were selected as study objects. The 63 known human congenital heart disease genes were used as detection targets to make a capture chip. The DNA samples were sequenced in high throughput after the exon capture. The data were filtered and compared with the database. The final pathological mutation site was obtained by the analysis of biological software, and the pathological mutation site was verified by Sanger sequencing. 缁撴灉:19渚媀SD鑳庡効涓叡妫，
本文编号：2205747
[Abstract]:Objective: to investigate the feasibility of detecting fetal genetic etiology of ventricular septal defect (VSD) by exon capture-high-throughput sequencing. Methods: nineteen fetuses diagnosed as VSD by echocardiography and whose microarray comparative genomic hybridization (a CGH) and G-banding results were normal were selected as study objects. The 63 known human congenital heart disease genes were used as detection targets to make a capture chip. The DNA samples were sequenced in high throughput after the exon capture. The data were filtered and compared with the database. The final pathological mutation site was obtained by the analysis of biological software, and the pathological mutation site was verified by Sanger sequencing. 缁撴灉:19渚媀SD鑳庡効涓叡妫，
本文编号：2205747
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