COL7A1基因在营养不良性大疱性表皮松解症的突变研究

山东大学学报(医学版) ›› 2011, Vol. 49 ›› Issue (8): 84-89.

COL7A1基因在营养不良性大疱性表皮松解症的突变研究

党宁宁1,2，逄曙光3，初晶学2，Dedee Murrell4，李春阳1

1.山东大学齐鲁医院皮肤科，济南 250012； 2.山东大学附属济南市中心医院皮肤科，济南 250013；
3.山东大学附属济南市中心医院内分泌科，济南 250013； 4.澳大利亚新南威尔士大学圣乔治医院皮肤科，悉尼 2217

收稿日期:2011-01-18 出版日期:2011-08-10 发布日期:2011-08-10
通讯作者: 李春阳，女，主任医师，博士生导师，主要从事真菌性皮肤病的研究。 E-mail：lichunyang2011@hotmail.com
作者简介:党宁宁（1974- ），女，副主任医师，博士研究生，主要从事遗传性皮肤病的研究。

The COL7A1 gene mutations in dystrophic epidermolysis bullosa

DANG Ningning1,2, PANG Shuguang3, CHU Jingxue2, Dedee Murrell4, LI Chunyang1

1. Department of Dermatology, Qilu Hospital of Shandong University, Jinan 250012, China;
2. Department of Dermatology, Jinan Central Hospital Affiliated to Shandong University, Jinan 250013, China;
3. Department of Endocrinology, Jinan Central Hospital Affiliated to Shandong University, Jinan 250013, China；
4. Department of Dermatology, St. George Hospital, University of New South Wales, Sydney 2217, Australia

Received:2011-01-18 Online:2011-08-10 Published:2011-08-10

摘要/Abstract

摘要：

目的探讨COL7A1基因在营养不良性大疱性表皮松解症中突变的基因型与临床表型的关系。方法收集14例营养不良性大疱性表皮松解症家系，皮肤活检进行常规组织病理、免疫荧光及电镜检查，采集外周血，提取基因组DNA进行COL7A1基因突变筛查。结果显性遗传型中的3个家系为COL7A1基因错义突变所致，泛发性隐性遗传型中4个家系结合了两个提前终止密码子突变，另外3个结合一个提前终止密码子和剪切位点或甘氨酸错义突变，3个局限性隐性遗传型家系则由提前终止密码子和错义突变引起。结论显性遗传型由甘氨酸错义突变所致，隐性遗传型则包括无义突变、剪切位点突变、插入或缺失突变等。

关键词: COL7A1基因；营养不良性大疱性表皮松解症；突变

Abstract:

Objective To study the genotype-phenotype correlation of dystrophic epidermolysis bullosa with COL7A1 mutations. Methods 14 dystrophic epidermolysis bullosa families were collected, and immunofluorescence and electron microscopy were processed from skin biopsies. Venous blood samples were collected and genomic DNA was extracted. COL7A1 was screened for sequence mutations. Results Three dominant cases resulted from COL7A1 missense mutation. Among Hallopeau-Sieme cases, four combined two premature termination codon(PTC) mutations and three combined PTC and spice-site or glycine substitution variants. PTC and missense mutation resulted in non Hallopeau-Sieme cases in our study. Conclusion Dominant type usually involves glycine substitutions， while the recessive type involves nonsense, splice site, internal deletions or insertions mutations.

Key words: COL7A1 gene; Dystrophic epidermolysis bullosa; Mutations

中图分类号:

R758.5+9

党宁宁1,2，逄曙光3，初晶学2，Dedee Murrell4，李春阳1. COL7A1基因在营养不良性大疱性表皮松解症的突变研究[J]. 山东大学学报(医学版), 2011, 49(8): 84-89.

DANG Ningning1,2, PANG Shuguang3, CHU Jingxue2, Dedee Murrell4, LI Chunyang1. The COL7A1 gene mutations in dystrophic epidermolysis bullosa[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(8): 84-89.

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