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Identification of Gene Mutation in a Case of Dominant Dystrophic Epidermolysis Bullosa
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 4
- DOI:
- 10.3760/j.issn:0412-4030.2002.04.001
- Key Word:
- 表皮松解,大疱性,营养不良性;突变
Abstract： 目的研究1例营养不良型大疱性表皮松解症家系中的基因突变情况.方法经组织病理、电镜及免疫荧光方法结合临床诊断为显性营养不良型大疱性表皮松解症1例,采用聚合酶链反应(PCR)DNA直接测序,限制性内切酶反应及应用D3S1359、D20S161、D5S818、D17S1293、CSFIPO五个座位微卫星DNA多态标志的方法对此例患者家系进行基因突变情况检测.结果家系中患者存在COL7A1上第6240位鸟嘌呤G被腺嘌呤A替代突变导致Ⅶ胶原第2043位的甘氨酸被精氨酸替代,而其父母及对照的健康人均不存在此突变.结论G2043R是引起该家系临床病变的特异突变,不是多态性变化,且此突变为一个denovo突变.
- [1]陈喜雪,李冠群,朱学骏.COL7A1基因在痒疹样大疱性表皮松解症家系中的突变研究[J].2000,(11).
- [2]Angela M. Christiano,Jouni Uitto.Molecular complexity of the cutaneous basement membrane zone[J].1996,5(1).
- [3]A M, Christiano,J, Uitto.Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa.[J].1996,11.
- [4]J O, Winberg,N, Hammami-Hauasli,O, Nilssen,etc.Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.[J].1997,6.
- [5]Christiano, A. M.,Bart, B. J.,Epstein, E. H.,etc.Genetic Basis of Bart's Syndrome: A Glycine Substitution Mutation in the Type VII Collagen Gene[J].1996,106(4).
- [6]A M, Christiano,A, Morricone,M, Paradisi,etc.A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.[J].1995,104.
- [7]P. B. Cserhalmi-Friedman,J. Grossman,S. Karpati,etc.Identification of a <em>de novo</em> glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa[J].1999,8(2).
- [8]Hashimoto I,Nomura K,Pulkkinen L,etc.Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.[J].1997,109(5).
- [9]Mohammedi R,Whittock NV,Abbs SJ,etc.Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.[J].1999,113(4).
- [10]Eady RA,Mohammedi R,Wessagowit V,etc.Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.[J].2001,26(1).