应用Ion Torrent半导体测序检测马凡综合征患者FBN1基因致病突变

发布时间：2018-02-01 20:57

本文关键词： Ion Torrent半导体测序技术马凡综合征 FBN基因　出处：《现代妇产科进展》2015年03期 　论文类型：期刊论文

【摘要】：目的:对3个马凡综合征(MFS)家系及1例MFS患者的原纤维蛋白1基因(FBN1)进行基因检测,以明确致病突变,为患者提供遗传咨询及产前诊断。方法:应用高通量Ion Torrent半导体测序技术对3个MFS家系的先证者及1例MFS患者的FBN1基因进行检测,筛选致病突变位点,并用Sanger测序法验证。对1例胎儿FBN1基因相应的位点进行检测,以明确其受累情况。结果:患者P1 FBN1基因检测到c.7125_7126 del TG杂合性缺失突变,为可疑致病位点;家系1患者FBN1基因检测到IVS 27-1GC(c.3464-1GC)杂合性突变,为致病突变;家系2患者FBN1基因检测到c.4981GC(p.Gly1661Arg)杂合性错义突变,为致病突变,胎儿携带同样突变;家系3患者FBN1基因检测到c.1546CT(p.Arg516Term)杂合性无义突变,为致病突变。结论:应用高通量Ion Torrent半导体测序技术检测到3个MFS家系及1个MFS患者的致病基因突变,为临床诊断及遗传咨询提供分子遗传学依据,并对1例胎儿进行了产前诊断。
[Abstract]:Objective: to detect the gene of fibrin 1 gene in three families of Marfan syndrome (MFS) and one patient with MFS in order to identify the pathogenic mutation. Genetic counseling and prenatal diagnosis for patients. Methods: application of high throughput Ion. Torrent semiconductor sequencing technique was used to detect the FBN1 gene in three MFS families and one MFS patient. The pathogenicity mutation sites were screened and confirmed by Sanger sequencing. The corresponding loci of FBN1 gene in one fetus were detected. Results: the deletion mutation of heterozygosity of C7125126 del TG was detected by P1 FBN1 gene in patients. The heterozygosity mutation of IVS 27-1GCU c.3464-1GC was detected in the FBN1 gene of family 1, which was a pathogenic mutation. The heterozygous missense mutation was detected in the FBN1 gene of pedigree 2 patients. It was a pathogenic mutation and the fetus carried the same mutation. The heterozygosity of FBN1 gene was detected in Chinese pedigrees 3 patients. The heterozygosity mutation was detected in C. 1546CTA p.Arg516Term. Conclusion: high throughput Ion Torrent semiconductor sequencing technique was used to detect the mutation of pathogenic gene in 3 MFS families and 1 MFS patient. To provide molecular genetic basis for clinical diagnosis and genetic counseling and prenatal diagnosis of one fetus.
【作者单位】：南京医科大学附属南京妇幼保健院产前诊断中心;
【基金】：南京市卫生青年人才培养工程(No:QRX11337)
【分类号】：R714.5
【正文快照】： 马凡综合征(Marfan syndrome,MFS)是一种影响机体结缔组织的常染色体显性遗传病,可能遗传于患病的双亲或是由自发的基因突变所致。结缔组织由细胞、纤维、细胞外间质组成,在机体内广泛分布。MFS病变可涉及心血管、骨骼、眼、关节、皮肤等多个系统,其中以心脏及血管的并发症最

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