突变为

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

目的鉴一痒疹样营养不良型大疱性表皮松解症家系的因突变,为进一步开展因诊断和因治疗奠。

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

23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%)。