汉族马凡综合征(MFS)患者FBN1基因两种新发突变分析

doi:10.3724/SP.J.1005.2010.00049

遗传 ›› 2010, Vol. 32 ›› Issue (1): 49-53.doi: 10.3724/SP.J.1005.2010.00049

汉族马凡综合征(MFS)患者FBN1基因两种新发突变分析

陈清泉^1,2,伍严安^1,2,黄肖利¹,陈同³,黄毅¹,陈发林^1,2,陈发文^1,2

1. 福建医科大学省立临床学院, 福建省立医院检验科, 福州 350001; 2. 福建医科大学医学技术与工程学院医学检验系, 福州 350004; 3. 福建医科大学省立临床学院, 福建省立医院心外科, 福州 350001

收稿日期:2009-07-09 修回日期:2009-10-12 出版日期:2010-01-20 发布日期:2010-01-15
通讯作者: 伍严安 E-mail:wya_sl@yahoo.com.cn
基金资助:
福建省自然科学基金项目(编号：2008J0076)资助

Two novel mutations of FBN1 gene in the patients with MFS among Han population

CHEN Qing-Quan^{1, 2}, WU Yan-An^{1, 2}, HUANG Xiao-Li¹, CHEN Tong³, HUANG Yi¹, CHEN Fa-Lin^{1, 2},
CHEN Fa-Wen^{1, 2}

1. Department of Laboratory Medicine, Fujian Provincial Hospital, Provincial Clinical College of Fujian Medical University, Fuzhou 350001, China; 2. Department of Laboratory Medicine, Medical Technology and Engineering College of Fujian Medical University, Fuzhou 350004, China; 3. Department of Cardiac Surgery, Fujian Provincial Hospital, Provincial Clinical College of Fujian Medical University, Fuzhou 350001, China

Received:2009-07-09 Revised:2009-10-12 Online:2010-01-20 Published:2010-01-15
Contact: WU Yan-An E-mail:wya_sl@yahoo.com.cn

摘要/Abstract

摘要：

为调查马凡综合征(Marfan syndrome, MFS)患者的原纤维蛋白-1(Fibrillin-1, FBN1)基因突变情况, 应用聚合酶链反应(PCR)和变性高效液相色谱法(Denaturing high-performance liquid chromatography, DHPLC)对MFS患者的FBN1基因进行突变筛查, 对DHPLC初筛异常的DNA片段进行测序分析。结果在两个MFS家系中发现FBN1基因两种新的突变: 一种为复合突变包含第55号外显子的缺失突变c.6862_6871delGGCTGTGTAG (p.Gly2288MetfsX109)、同义突变c.6861A>G和内含子的突变c.[6871+1_6871+11delGTAAGAGGATC; 6871+34dupCATCAGAAGTGACAGTGGACA]; 另一种为第20号外显子的错义突变c.2462G>A(p.Cys821Tyr)。研究表明, FBN1基因的缺失突变c.[6862_6871delGGCTGTGTAG; 6871+1_6871+11delGTAAGAGGATC] (p.Gly2288MetfsX109)和错义突变c.2462G>A(p.Cys821Tyr)可能分别是这两个家系患者的致病原因。

关键词: 马凡综合征, 原纤维蛋白-1, 基因, 突变, 变性高效液相色谱

Abstract:

To detect the mutations of fibrillin-1 (FBN1) gene in the patients with Marfan syndrome (MFS), polymerase chain reaction (PCR) and denaturing high-performance liquid chromatography (DHPLC) were conducted to screen for the mutations in FBN1 gene. Sequence analyses were carried out when the DNA amplification fragments of the DHPLC elution profiles showed difference from the corresponding normal elution profile. Two novel mutations were detected in two families with MFS, respectively. One was a multiplex mutation in exon 55 containing a deletion mutation c.6862_6871delGGCTGTGTAG (p.Gly2288MetfsX109), a synonymous mutation (c.6861A>G) and an intronic mutation c.[6871+1_6871+11delGTAAGAGGATC; 6871+34dupCATCAGAAGTGACAGTGGACA], and the other was a missense mutation in exon 20 c.2462G>A (p.Cys821Tyr). The results indicated that the deletion mutation c.[6862_6871delGGCTGT GTAG; 6871+1_6871+11delGTAAGAGGATC] (p.Gly2288MetfsX109) and the missense mutation c.2462G>A (p.Cys821Tyr) of FBN1 gene may cause the two family patients with MFS respectively.

Key words: Marfan syndrome, fibrillin-1, gene, mutation, high-performance liquid chromatography

陈清泉，伍严安，黄肖利，陈同，黄毅，陈发林，陈发文. 汉族马凡综合征(MFS)患者FBN1基因两种新发突变分析[J]. 遗传, 2010, 32(1): 49-53.

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汉族马凡综合征(MFS)患者FBN1基因两种新发突变分析

Two novel mutations of FBN1 gene in the patients with MFS among Han population

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