| 2例汉族马凡综合征患者的FBN1基因新发突变 |
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| 引用本文： | 魏碧娜, 陶敏, 范雪娇, 王韧, 饶慧英, 陈喜军, 黄肖利, 伍严安. 2例汉族马凡综合征患者的FBN1基因新发突变[J]. 分子影像学杂志, 2016, 39(4): 363-365. doi: 10.3969/j.issn.1674-4500.2016.04.06 |
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| 作者姓名： | 魏碧娜 陶敏 范雪娇 王韧 饶慧英 陈喜军 黄肖利 伍严安 |
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| 作者单位： | 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 |
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| 基金项目： | 福建省立医院院内重点项目2014081福建省自然科学基金C0810004 |
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| 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6258delC，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。
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| 关 键 词： | 马凡综合征 原纤维蛋白-1 基因突变 DNA测序 |
| 收稿时间： | 2016-03-05 |
Novel FBN1 mutations in 2 Chinese Han patients of Marfan syndrome |
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| Bina WEI, Min TAO, Xuejiao FAN, Ren WANG, Huiying RAO, Xijun CHEN, Xiaoli HUANG, Yanan WU. Novel FBN1 mutations in 2 Chinese Han patients of Marfan syndrome[J]. Journal of Molecular Imaging, 2016, 39(4): 363-365. doi: 10.3969/j.issn.1674-4500.2016.04.06 |
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| Authors: | Bina WEI Min TAO Xuejiao FAN Ren WANG Huiying RAO Xijun CHEN Xiaoli HUANG Yanan WU |
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| Affiliation: | 1. Department of medical technology, Fujian Health Technical College, Fuzhou 350101, China;;2. Department of Clinical laboratory, Provincial Clinical Medical College of Fujian Medical University/ Fujian Province Hospital, Fuzhou 350001, China;;3. Department of Cardiovascular Surgery Provincial Clinical Medical College of Fujian Medical University/ Fujian Province Hospital, Fuzhou 350001, China;;4. Department of Ophthalmology, Provincial Clinical Medical College of Fujian Medical University/ Fujian Province Hospital, Fuzhou 350001, China |
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| Abstract: | ObjectiveTo 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. MethodsGenomic 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.ResultsTwo 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 6258delC, which producing a premature termination condon (PTC). Both of the mutations were not reported previously.ConclusionThe 2 FBN1 gene mutations are possibly the pathogenesis of the 2 MFS patients. |
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| Keywords: | Marfan syndrome fibrillin-1 gene mutation DNA sequencing |
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