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 splice site mutation in collagen type VII gene in a chinese family with dominant dystrophic epidermolysis bullosa pruriginosa
Jiang, W; Bu, DF; Yang, Y; Zhu, XJ
关键词COL7A1 mutation dystrophic epidermolysis bullosa DEB pruriginosa
刊名ACTA DERMATO-VENEREOLOGICA
2002-05-01
82期:3页:187-191
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]COL7A1 MUTATIONS ; CLASSIFICATION ; DIAGNOSIS
英文摘要

Dystrophic epidermolysis bullosa pruriginosa, a subtype of epidermolysis bullosa dystrophica and a heterogeneous inherited disease, is characterized by pruritus, excoriated nodular prurigo-like lesions, skin fragility, altered anchoring fibrils and loss of dermal-epidermal adhesion. Mutation in type VII collagen gene (COL7A1) is thought to be implicated in the underlying change for dystrophic epidermolysis bullosa pruriginosa. We report here a large family of dominant dystrophic epidermolysis bullosa pruriginosa. Mutation analysis using polymerase chain reaction and direct sequencing demonstrated a novel nucleotide substitution of 6899A-->G in exon 87 in one COL7A1 allele of the proband and 18 affected family members. This substitution was not found in 100 normal alleles. Polymerase chain reaction and sequencing of the cDNA, reverse transcribed from the proband′s peripheral lymphocyte RNA, suggest that this mutation causes aberrant COL7A1 mRNA splicing of exon 87 skipping. Clinical features and pedigree analysis suggest that 6899A-->G substitution is a mutation with full penetrance and variable expressivity.

语种英语
WOS记录号WOS:000177409800006
引用统计
被引频次:24[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/400002259/63985
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
Jiang, W,Bu, DF,Yang, Y,et al. A novel splice site mutation in collagen type VII gene in a chinese family with dominant dystrophic epidermolysis bullosa pruriginosa[J]. ACTA DERMATO-VENEREOLOGICA,2002,82(3):187-191.
APA Jiang, W,Bu, DF,Yang, Y,&Zhu, XJ.(2002).A novel splice site mutation in collagen type VII gene in a chinese family with dominant dystrophic epidermolysis bullosa pruriginosa.ACTA DERMATO-VENEREOLOGICA,82(3),187-191.
MLA Jiang, W,et al."A novel splice site mutation in collagen type VII gene in a chinese family with dominant dystrophic epidermolysis bullosa pruriginosa".ACTA DERMATO-VENEREOLOGICA 82.3(2002):187-191.
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