2个痒疹样营养不良型大疱性表皮松解症家系基因突变分析  

Analysis of COL7A1 gene mutation in two dystrophic epidermolysis bullosa pruriginosa families in China

作　　者：姜薇[1] 孙婷婷[1] 赵俊郁[2] 朱学骏[2] 

机构地区：[1]北京大学第三医院皮肤科,北京100191 [2]北京大学第一医院皮肤科,北京100034

出　　处：《中国麻风皮肤病杂志》2010年第11期753-755,共3页China Journal of Leprosy and Skin Diseases

摘　　要：目的:检测2个痒疹样营养不良型大疱性表皮松解症家系的基因突变。方法: 应用聚合酶链反应(PCR)、RT-PCR、DNA直接测序明确突变位点。结果:发现家系1中先证者COL7A1基因的61号外显子5217位发生G>C的改变,造成甘氨酸(GGT)被精氨酸(CGT)取代;家系2中先证者87号内含子c.6900+1G>C的剪接突变,导致87号外显子被剪切,86号外显子与88号外显子直接拼接,Ⅶ型胶原的胶原区缺少了23个氨基酸;健康对照不存在此两种突变。结论: 2个家系发现的突变均为导致该疾病发生的特异性突变。Objective： To identify the COL7A1 gene mutation in two dystrophic epidermolysis bullosa pruriginosa （DEBP） families in China. Methods： PCR, RT- PCR and direct DNA sequencing were employed to determine the mutation sites and mutation fashions. Results： A glycine substitution in exon 61 was found in one family of DEBP. A splicing mutation was found in 87 intron of COL7A1 gene in the second family of DEBP and resulted to in - frame deletion of exon 87. It was predicted that synthesis of ctl （VII） collagen polypeptides was internally shortened by 23 amino acids. Two mutations were not found in control normal individuals. Conclusion： The glycine substitution and the splicing mutation are both the underlying causes of the two dystrophic epidermolysis bullosa pruriginosa subtypes.

关 键 词：大疱性表皮松解症 营养不良型 痒疹样 基因突变 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]