Ueda M, Ichihashi M
Department of Dermatology, Kobe University School of Medicine.
Nihon Rinsho. 1995 Nov;53(11):2815-20.
Xeroderma pigmentosum (XP), an autosomal recessive disorder, is characterized by extreme sensitivity to sun exposure, a high incidence of skin cancer and frequent neurological abnormalities. Cells from XP patients of seven complementation groups (A-G) have defects in the nucleotide excision repair of UV damage, whereas the defect of another type, the XP variant, is not yet known. Recent discoveries of causative genes of XP have uncovered the molecular mechanisms of nucleotide excision repair. The analysis of gene mutation in XPA gene made a diagnosis of patients and carriers quicker and easier. Further, a relationship between the type of XPA gene mutation and clinical severity has also been uncovered. By analysing skin cancers developed on XP patients, the representative of UV-induced skin cancers, the molecular bases of UV skin carcinogenesis have also been rapidly discovered.
着色性干皮病（XP）是一种常染色体隐性疾病，其特征为对阳光暴露极度敏感、皮肤癌高发以及频繁出现神经异常。来自七个互补组（A - G）的XP患者细胞在紫外线损伤的核苷酸切除修复方面存在缺陷，而另一种类型即XP变异型的缺陷尚不清楚。XP致病基因的最新发现揭示了核苷酸切除修复的分子机制。对XPA基因突变的分析使患者和携带者的诊断更快、更容易。此外，还发现了XPA基因突变类型与临床严重程度之间的关系。通过分析XP患者身上发生的皮肤癌（紫外线诱导皮肤癌的典型代表），紫外线皮肤致癌作用的分子基础也已迅速被发现。
