期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

汉族马凡综合征(MFS)患者FBN1基因两种新发突变分析 被引量：4

Two novel mutations of FBN1 gene in the patients with MFS among Han population
下载PDF
导出
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。 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＋ltdelGTAAGAGGATC] （p.Gly2288MetfsX109） and the missense mutation c.2462G〉A （p.Cys821Tyr） of FBN1 gene may cause the two family patients with MFS respectively.
作者 陈清泉 伍严安 黄肖利 陈同 黄毅 陈发林 陈发文
机构地区 福建医科大学省立临床学院 福建医科大学医学技术与工程学院医学检验系 福建医科大学省立临床学院
出处 《遗传》 CAS CSCD 北大核心 2010年第1期49-53,共5页 Hereditas（Beijing)
基金 福建省自然科学基金项目(编号:2008J0076)资助
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 Marfan syndrome fibrillin-1 gene mutation high-performance liquid chromatography
分类号 Q987 [生物学—遗传学]
  • 相关文献

参考文献15

  • 1Dietz HC, Cutting GR, Pyeritz RE, Masten CL, Sakai LY, Corson GM, Puffenberqer EG, Hamosh A, Nanthakumar EJ, Curristin SM. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature, 1991, 352(6333): 337-339.
  • 2De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pveritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet, 1996, 62(4): 417-426.
  • 3Collod-Beroud G, Le Bourdelles S, Ades L, Ala-kokko L, Booms P, Boxer M, Child A, Comeqlio P, De Paepe A, Hvland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuvtinck L, Peltonen L, Rantamanki T, Robinson P, Steinmann B, Junien C, Beroud C, Boileau C. Update of the UMD-FBNlmutation database and creation of an FBN1 polymorphism database. Hum Murat, 2003, 22(3): 199-208.
  • 4Robinson PN, Godfrey M. The molecular genetic of Marfan syndrome and related microfibrillopathies. J Med Genet, 2000, 37(1): 9-25.
  • 5Robinson PN, Booms P, Katzke S, Ladewiq M, Neumann L, Palz M, Preqla R, Tieche E, Rosenberq T. Mutation of FBN1 and genotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat, 2002, 20(3): 153-161.
  • 6Korkko J, Kaitila I, Lonnqvist L, Peltonen L, Ala-Kokko L Sensitivity of conformation sensitive gelelectrophoresis in detecting mutations in Marfan syndrome and related conditions. J Med Genet, 2002, 39(1): 34-41.
  • 7Nijbroek G, Sood S, Mclntosh I, Francomano CA, Bull E,Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Fifteen novel FBN1 mutation causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet, 1995, 57(1): 8-21.
  • 8伍严安,陈喜军,黄肖利,陈同,陈发文,陈发林,黄毅.Marfan综合征FBN1基因新的剪接位点的置换突变[J].福建医科大学学报,2007,41(2):156-158. 被引量：7
  • 9Matyas G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. Evaluation and application of denaturing HPLC for mutations detection in Marfan syndrome: identification of 20 novel mutation and two novel polymorphisms in the FBN1 gene. Hum Mutat, 2002, 19(4): 443-456.
  • 10Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kaiii T, Jondeau G, Ohta T, Kishino T, Furukawa Y,Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet, 2004, 36(8): 855-860.

二级参考文献10

  • 1黄肖利,伍严安,陈发林,黄毅,马晓宁,陈同.马凡综合征两种新的原纤维蛋白-1基因突变[J].中华医学遗传学杂志,2004,21(6):562-565. 被引量：5
  • 2Collod-Beroud G,LeBourdelles S,Ades L,et al.Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database[J].Hum Mutat,2003,22(3):199-208.
  • 3Robinson P N,Booms P,Katzke S,et al.Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies[J].Hum Mutat,2002,20(3):153-161.
  • 4Mizuguchi T,Collod-Beroud G,Akiyama T,et al.Heterozygous TGFBR2 mutations in Marfan syndrome[J].Nat Genet,2004,36(8):855-860.
  • 5Matyas G,DePaepe A,Halliday D,et al.Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome:Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene[J].Hum Mutat,2002,19(4):443-456.
  • 6Korkko J,Kaitila I,Lonnqvist L,et al.Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions[J].J Med Genet,2002,39(1):34-41.
  • 7Biggin A,Holman K,Brett M,et al.Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fribrillinopathy[J].Hum Mutat,2004,23(1):99.
  • 8Rommel K,Karck M,Haverich A,et al.Identification of 29 novel and nine recurrent fibrillin-1(FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome[J].Hum Mutat,2005,26(6):529-539.
  • 9Arbustini E,Grasso M,Ansaldi S,et al.Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies[J].Hum Mutat,2005,26(5):494.
  • 10Xiao W Z,Cefner P J.Denaturing high-performance liquid chromatography:a review[J].Hum Mutat,2001,17(6):439-474.

共引文献6

同被引文献73

引证文献4

二级引证文献10

遗传
2010年 第1期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部