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学科主题临床医学
Genotype-Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa
Jiang, Wei1; Sun, Ting-ting1; Lei, Peng-cheng1; Zhu, Xue-jun2
关键词dystrophic epidermolysis bullosa pruriginosa genotype-phenotype correlation Chinese patients
刊名ACTA DERMATO-VENEREOLOGICA
2012
DOI10.2340/00015555-1178
92期:1页:50-53
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]GLYCINE SUBSTITUTION MUTATIONS ; VII COLLAGEN ; MISSENSE MUTATION ; SEQUENCE VARIANTS ; COL7A1 ; GENE ; DOMINANT ; HETEROGENEITY ; FAMILY
英文摘要

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare variant of dystrophic epidermolysis bullosa (DEB) due to dominant or recessive mutations in the COL7A1 gene. More than 40 mutations in COL7A1 have been described in DEB-Pr. The aim of this study was to understand the genotype phenotype correlation in Chinese patients with DEB-Pr. Three Chinese families with typical clinical features of DEB-Pr were studied. The results were analysed in association with the eight Chinese DEB-Pr patients reported in the literature. In the three Chinese families with DEB-Pr, we found two dominant cases with G1773R and c.6900+1G>C mutations, and one case with heterozygous G2701W mutation of uncertain inheritance mode. In the 10 Chinese patients with dominant type of DEB-Pr, 7 glycine substitutions and three splicing site mutations of exon 87 skipping were identified. Glycine substitution mutations in the triple helix region and exon 87 skipping, leading to the in-frame deletion of 23 amino acid residues in the triple-helix, are often seen in Chinese patients with dominant DEB-Pr, although the glycine substitutions are also frequently present in dominant DEB.

语种英语
WOS记录号WOS:000300388400010
引用统计
被引频次:8[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/400002259/58227
专题北京大学第三临床医学院_皮肤科
北京大学第一临床医学院_皮肤性病科
北京大学临床肿瘤学院_医院感染管理与疾病预防控制科
作者单位1.Peking Univ, Hosp 1, Beijing 100871, Peoples R China
2.Peking Univ, Dept Dermatol, Hosp 3, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Jiang, Wei,Sun, Ting-ting,Lei, Peng-cheng,et al. Genotype-Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa[J]. ACTA DERMATO-VENEREOLOGICA,2012,92(1):50-53.
APA Jiang, Wei,Sun, Ting-ting,Lei, Peng-cheng,&Zhu, Xue-jun.(2012).Genotype-Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa.ACTA DERMATO-VENEREOLOGICA,92(1),50-53.
MLA Jiang, Wei,et al."Genotype-Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa".ACTA DERMATO-VENEREOLOGICA 92.1(2012):50-53.
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