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着色性干皮病(xeroderina pigmentosum,XP)是一种常染色体隐性遗传疾病,其主要特征为皮肤对阳光过敏,并且容易发生皮肤癌。大多数XP病人的皮肤成纤维细胞,都表现为对紫外线(UV)诱发DNA分子中形成的胸腺嘧啶二聚体的切除修复功能缺陷。互补研究证明XP切除修复缺陷的遗传异质性,目前已发现了有七个不同的互补群。另外有一种病人(XP杂种),通过测定不按时DNA合成(unscheduled DNA synthesis,UDS)发现其切除修复和修复复制都是正常的,但这种病人的皮肤成纤维细胞则不能把新合成的DNA分子的分子量从低转化
Xeroderina pigmentosum (XP) is an autosomal recessive disease characterized by skin allergies to sunlight and skin cancer. The skin fibroblasts of most XP patients are characterized by functional defects in the excision and repair of thymine dimers formed in UV-induced DNA molecules. Complementary studies have demonstrated the genetic heterogeneity of XP excision repair defects, and seven different complementation groups have now been discovered. In addition, there is a patient (XP hybrid) whose excision and repair replications are normal by measuring unscheduled DNA synthesis (UDS), but this patient’s skin fibroblasts are unable to incorporate newly synthesized DNA The molecular weight of the molecule changes from low