Objective To identify the COL7A1 gene mutation in a family with dy strophic epidermolysis bullosa pruriginosa.

目的鉴定一营养不良型大疱性表皮松解症家系的基因突变,为进一步开展基因诊断和基因治疗奠定基础。

Results Of the 23 mutations, 22 were detected by heteroduplex analysis (96%), 20 by SSCP analysis (87%) and 23 by heteroduplex-SSCP analysis (100%).

果23个杂合子突变中ˇ异源双链法、SSCP法与异源双链-SSCP法检出突变别为22个(96%)、20个(87%)和23个(100%)。