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

目的鉴定一痒疹样营养不良型大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法检出突变分别为22(96%)、20(87%)和23(100%)。