中国麻风皮肤病杂志 ›› 2022, Vol. 38 ›› Issue (9): 607-613.doi: 10.12144/zgmfskin202209607

• 论著 • 上一篇    下一篇

显性营养不良型大疱性表皮松解症COL7A1基因突变分析

祝玉,吴玮,谢锦莹,周顺婷,黄闽嘉,罗志强,周书文   

  1. 广东医科大学附属医院皮肤科，广东湛江，524000
  • 出版日期:2022-09-15 发布日期:2022-07-13

Mutation analysis of COL7A1 gene in dominant epidermolysis bullosa

ZHU Yu, WU Wei, XIE Jinying, ZHOU Shunting, HUANG Minjia, LUO Zhiqiang, ZHOU Shuwen   

  1. Department of Dermatology, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524000, China
  • Online:2022-09-15 Published:2022-07-13

PDF (PC)

260

摘要： 目的：营养不良型大疱性表皮松解症（dystrophic epidermolysis bullosa，DEB）是一种常染色体显性或隐性遗传性疾病，由编码Ⅶ型胶原的基因（COL7A1基因）突变引起。本文对DEB一家系COL7A1基因突变位点进行检测。方法：对先证者进行DNA全外显子测序，用Sanger测序验证其胞妹的COL7A1突变位点。 结果：先证者及其患病胞妹的COL7A1基因型一致，外显子86上的点突变：c.6761G>A；p.Gly2254Glu。结论：新发现一个DEB家族中COL7A1基因外显子86上的一个突变位点，目前在国内未见报道。

关键词: 显性营养不良型大疱性表皮松解症, 痒疹型, COL7A1基因, 错义突变

Abstract: Objective:  Dystrophic epidermolysis bullosa is an autosomal dominant or recessive disorder caused by mutations in the gene encoding type Ⅶ collagen (COL7A1 gene). To detect the mutation of COL7A1 in a DEB family. Methods: We performed full exon sequencing on DNA of the proband, and verified the COL7A1 mutation site of her sister by Sanger sequencing. Results: The proband and her sister had the same COL7A1 genotype, and the point mutation on exon 86 was c.6761G>A (p.Gly2254Glu). Conclusion: A new mutation locus of DEB family COL7A1 gene is found, which has not been reported in China at present.

Key words: dominant dystrophic epidermolysis bullosa, prurigo type, COL7A1 gene, missense mutation