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学科主题: 临床医学
题名:
A novel splice site mutation in collagen type VII gene in a chinese family with dominant dystrophic epidermolysis bullosa pruriginosa
作者: Jiang, W; Bu, DF; Yang, Y; Zhu, XJ
关键词: COL7A1 mutation ; dystrophic epidermolysis bullosa ; DEB pruriginosa
刊名: ACTA DERMATO-VENEREOLOGICA
发表日期: 2002-05-01
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63985
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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作者单位: Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China

Recommended Citation:
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.
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