Copeland N E, Hanke C W, Michalak J A
Department of Dermatology, Indiana University, Indianapolis, USA.
Dermatol Surg. 1997 Jun;23(6):447-55. doi: 10.1111/j.1524-4725.1997.tb00084.x.
Xeroderma pigmentosum is an extremely rare, autosomal recessive disease characterized by a more than 1000-fold increase in nonmelanoma skin cancer. Individuals with this disease can be divided into eight complementation groups: A-G and V for variant. Each one represents a different genetic defect in DNA repair.
To review the molecular basis of xeroderma pigmentosum.
Deficiencies in various gene products in the nucleotide excision repair pathway cause xeroderma pigmentosum in complementation groups A-G. The molecular basis of the variant group remains to be elucidated.
Research into the genetic defects underlying xeroderma pigmentosum have led to an increased understanding of nucleotide excision repair.
着色性干皮病是一种极其罕见的常染色体隐性疾病，其特征是非黑素瘤皮肤癌的发病率增加1000多倍。患有这种疾病的个体可分为八个互补组：A - G组和V组（变异型）。每组代表DNA修复中的不同基因缺陷。
综述着色性干皮病的分子基础。
核苷酸切除修复途径中各种基因产物的缺陷导致A - G互补组出现着色性干皮病。变异组的分子基础仍有待阐明。
对着色性干皮病潜在基因缺陷的研究增进了对核苷酸切除修复的理解。
