2例汉族马凡综合征患者的FBN1基因新发突变  

Novel FBN1 mutations in 2 Chinese Han patients of Marfan syndrome

作　　者：魏碧娜 陶敏[2] 范雪娇[2] 王韧[3] 饶慧英[4] 陈喜军[2] 黄肖利[2] 伍严安[2] 

机构地区：[1]福建省卫生职业技术学院医学技术系,福建福州350101 [2]福建医科大学省立临床医学院//福建省立医院检验科,福建福州350001 [3]福建医科大学省立临床医学院//福建省立医院心血管外科,福建福州350001 [4]福建医科大学省立临床医学院//福建省立医院眼科,福建福州350001

出　　处：《分子影像学杂志》2016年第4期363-365,共3页Journal of Molecular Imaging

基　　金：福建省自然科学基金(C0810004);福建省立医院院内重点项目(2014081)

摘　　要：目的对4例汉族马凡综合征(MFS)患者的原纤蛋白-1(FBN1)基因进行突变筛查,探讨MFS与FBN1基因突变的关系。方法提取4例患者外周血全基因组DNA,应用PCR-DNA测序的方法进行FBN1基因突变筛查和鉴定。结果在2例MFS患者FBN1中均发现FBN1突变。其中1例为错义突变,即第63号外显子7892G>A(Cys2631Tyr);另1例为移码突变,即第50号外显子6258del C,该突变导致提前终止密码子。这两个突变先前均未见报道。结论 FBN1基因突变可能是这2例MFS患者的致病因素。Objective To detect FBN1 mutation by screening FBN1 gene from 4 patients with Marfan syndrome（MFS）to investigate the correlation between the gene mutation and the MFS. Methods Genomic DNAs were extracted from whole blood sample of the 4 patients. All 65 exons of FBN1 were amplified by polymerase chain reaction（PCR） followed by Sanger sequencing analysis respectively. Results Two mutations of the FBN1 were found in 2 out of the 4 MFS patients respectively.One was a missense mutation of 7892G〉A（C2631Y）and the other frame shift mutation of 6258 del C, which producing a premature termination condon（PTC）. Both of the mutations were not reported previously. Conclusion The 2 FBN1 gene mutations are possibly the pathogenesis of the 2 MFS patients.

关 键 词：马凡综合征 原纤维蛋白-1 基因突变 DNA测序 

分 类 号：R593.2[医药卫生—内科学]