现代妇产科进展Issue(3)：201-204,4.DOI:10.13283/j.cnki.xdfckjz.2015.03.010
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
Mutation detection of FBN1 in marfan syndrome patients by Ion Torrent semi﹣conductor sequencing
摘要
Abstract
Objective:To identify pathogenic mutations of FBN1 in 3 Marfan syndrome ( MFS) families and 1 MFS patient for genetic counseling and prenatal diagnosis. Methods:U—sing Ion Torrent semi—conductor sequencing to detect mutations of FBN1 in 3 Marfan syndrome ( MFS) families and 1 MFS patient,then select pathogenic mutations,using Sanger sequencing to verify these mutations. Using Sanger sequencing to detect the corresponding site of FBN1 in the fetus. Results:we identified one probably pathogenic FBN1 mutation ( c. 7125 7126 del TG) in patient P1,one pathogenic FBN1 mutation(IVS 27—1G>C) in patients of family 1,one pathogenic FBN1 mutation(c. 4981G>C) in patient P6 and the fetus of family 2,one pathogen—ic FBN1 mutation(c. 1546C>T) in patients of family 3. Conclusion:We indentified pathogenic FBN1 mutations in 3 Marfan syndrome( MFS) families and 1 MFS patient,provided molecular genetic evidences for clinical diagnosis and genetic counseling,and made a prenatal diagnosis in one fetus.关键词
Ion Torrent半导体测序技术/马凡综合征/FBN1基因Key words
Ion Torrent semi-conductor sequencing/Marfan syndrome/FBN1分类
医药卫生引用本文复制引用
成建,马定远,刘邺,张菁菁,罗春玉,乔凤昌,许争峰..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[J].现代妇产科进展,2015,(3):201-204,4.基金项目
南京市卫生青年人才培养工程(No:QRX11337) （No:QRX11337）
