Establishment of complementation group diagnosis of xeroderma pigmentosum by using adenovirus vector

点击翻译按钮获取中文摘要

Diagnosis of xeroderma pigmentosum (XP) requires clinical diagnosis of photosensitivity in an infantile period, diagnosis of XP complementation groups and an identification of the mutated gene. Among these diagnostic processes, the most important one is determination of the XP complementation group. Diagnosis of an XP complementation group requires sets of fibroblast cell strains derived from each XP and cell fusion techniques. These make it difficult to diagnose XP easily and quickly. We have tried to establish a novel diagnostic procedure by using adenovirus vector carrying each cDNA of wild-type XP genes. We have cloned cDNAs of XP-A, -B, -C, -D, -D, -F and -G from normal fibroblast cells by RT-PCR and constructed recombinant adenovirus expressing XP-A, XP-B or XP-D. Among them, XP-A-expressing adenovirus rescued XP-A fibroblast cells after exposure to UVB, but XP-B- and XP-D-expressing virus were inert to UVB-exposed XP-A cells. These result indicate that this adenovirus-mediated gene transfer system of XP genes contributes to an easy and quick diagnosis of XP complementation groups and that XP-A can be diagnosed by this method.