IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa
Wu, Y; Li, GQ; Zhu, XJ
关键词Gabeb Bpag2 Mutations
刊名JOURNAL OF DERMATOLOGICAL SCIENCE
2002-04-01
28期:3页:181-186
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
研究领域[WOS]Dermatology
关键词[WOS]DELETION MUTATION ; ANTIGEN
英文摘要

We describe a Chinese family with generalized atrophic benign epidermolysis bullosa (GABEB), a non-lethal variant of junctional epidermolysis bullosa. The proband was an offspring of consanguineous parents, had generalized blisters since birth and developed severe alopecia during early childhood, Ultrastructural examination of the proband′s skin revealed fissures in the lamina lucida. Immunofluorescence assays using a monoclonal antibody recognizing the extracellular domain or the 180 kDa buttons pemphigoid antigen (BPAG2) showed loss of fluorescent signal in the basal membrane zone of the skin. DNA sequencing revealed a homozygous C-to-G transversion at nucleotide position 899 in exon 11 of the COL17A1 gene, which encodes BPAG2. This mutation results in serine to cysteine at position 265, which is located in a highly conserved region of the intracellular domain of BPAG2. We showed that the proband′s father was heterozygous for this mutation. In addition, we found a novel polymorphic substitution of C-to-G at nucleotide position 798 in exon 10 of the COL17A1 gene, which results in an 1233M change in BPAG2 and is a common polymorphic allele in a limited Chinese population. (C) 20021 Elsevier Science Ireland Ltd. All rights reserved.

语种英语
WOS记录号WOS:000175014400002
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56568
专题北京大学第一临床医学院_皮肤性病科
作者单位Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Wu, Y,Li, GQ,Zhu, XJ. A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa[J]. JOURNAL OF DERMATOLOGICAL SCIENCE,2002,28(3):181-186.
APA Wu, Y,Li, GQ,&Zhu, XJ.(2002).A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa.JOURNAL OF DERMATOLOGICAL SCIENCE,28(3),181-186.
MLA Wu, Y,et al."A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa".JOURNAL OF DERMATOLOGICAL SCIENCE 28.3(2002):181-186.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Wu, Y]的文章
[Li, GQ]的文章
[Zhu, XJ]的文章
百度学术
百度学术中相似的文章
[Wu, Y]的文章
[Li, GQ]的文章
[Zhu, XJ]的文章
必应学术
必应学术中相似的文章
[Wu, Y]的文章
[Li, GQ]的文章
[Zhu, XJ]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。