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X连锁少汗性外胚叶发育不良家系基因突变检测 被引量：1

Mutation analysis of ED1 gene in a pedigree with X - linked hypohidrotic ectodermal dysplasia
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摘要 目的:检测1例3月龄少汗性外胚叶发育不良男性患儿及其家族成员少汗性外胚叶发育不良(ED1)基因的突变。方法:提取家系成员白细胞中的DNA,设计引物特异扩增ED1基因的外显子及其侧翼区域并测序,与正常人的测序结果进行比较。结果:患儿ED1基因第466位碱基由胞嘧啶变为胸腺嘧啶,使翻译产物中相应的氨基酸由精氨酸变为半胱氨酸,即R156C。先证者母亲为杂合子,父亲未检测到突变。结论:R156C导致了X连锁少汗性外胚叶发育不良在该家系中的传递。 Objective： To detect the mutation in a pedigree with X- hnked hypohidrotic ectodermal dysplasia （HED）. Methods： The DNA was abstracted and sequenced from lenkocytes for the detection of ED1 gene in exon 8 by PCR. The results were compared with normal controls. Results： The proband had a mutation in ED1 gene （c.466C 〉 T）, which resulted in an amino acid replacement of R156C. The proband＇s mother was a heterozygote and the mutation not detected in the father. Conclusion： The mutation of R156C is the cause of X- linked HED in this Chinese pedigree.
作者 刘跃 刘江波 李明
机构地区 广东省深圳市宝安区妇幼保健院皮肤科 上海交通大学附属新华医院皮肤科
出处 《中国麻风皮肤病杂志》 2012年第1期7-9,共3页 China Journal of Leprosy and Skin Diseases
关键词 X连锁少汗性外胚叶发育不良 基因 突变 X- linked hypohidrotic ectodermal dysplasia gene mutation
分类号 R758.5 [医药卫生—皮肤病学与性病学]
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参考文献9

  • 1Li M,Xu TY,Yang LJ,et al.A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.Arch Dermatol Res 2008;300(7):389-391.
  • 2Vincent MC,Biancalana V,Ginisty D,et al.Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.Eur J Hum Genet 2001;9(5):355-363.
  • 3Monreal A,Zonana J,Ferguson B,et al.Identification of a new splice form of the ED1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.Am J Hum Genet 1998;63(2):380-389.
  • 4Ferguson B,Thomas N,Munoz F,et al.Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia:diagnostic implications.J Med Genet 1998;35(2):112-115.
  • 5Huang C,Yang Q,Ke T,et al.A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.J Hum Genet 2006;51(12):1133-1137.
  • 6Tariq M,Wasif N,Ayub M,et al.A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia.Eur J Dermatol 2007;17(3):209-212.
  • 7Ezer S,Bayes M,Elomaa O,et al.Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.Hum Mol Genet 1999;8(11):2079-2086.
  • 8张慧,权晟,高敏,肖风丽,陆闻生,沈玉君,周伏圣,杨森,张学军.X性连锁少汗性外胚叶发育不良一家系的基因诊断[J].中国医学科学院学报,2007,29(2):201-204. 被引量：8
  • 9Zhang XJ,Chen JJ,Song YX,et al.Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia.Arch Dermatol Res 2003;295(1):38-42.

二级参考文献13

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  • 4Monreal AW,Zonana J,Ferguson B.Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutation[J].Am J Hum Genet,1998,63(2):380-389.
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  • 6Bayes M,Hartung AJ,Ezer S,et al.The anhidrotic ectodermal dysplasia gene(EDA)undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats[J].Hum Mol Genet,1998,7(11):1661-1669.
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  • 10Lin TK,Huang CY,Lin MH,et al.A novel 7-bp deletion mutation in a Taiwan Residents family with X-linked hypohidrotic ectodermal dysplasia[J].Clin Exp Dermatol,2004,29(5):536-538.

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中国麻风皮肤病杂志
2012年 第1期

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