科凯恩氏综合征互补B蛋白质(CSB)是核苷酸切除修复(NER)通路的关键蛋白质,由ERCC6基因编码,该基因的突变可引起科凯恩氏综合征。有CSB缺陷的细胞易出现氧化应激引起的DNA氧化损伤。单核苷酸多态性(SNP)是人类遗传变异中最常见的一种类型,与很多疾病的易感性相关。本文旨在综述ERCC6基因SNP的研究进展。 Cockney’s syndrome Complementary B-protein (CSB) is a key protein in the nucleotide excision repair (NER) pathway and is encoded by the ERCC6 gene and mutations in this gene can cause Cockain’s syndrome. Cells with CSB defects are prone to DNA oxidative damage caused by oxidative stress. Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation in humans and are associated with the susceptibility of many diseases. This article aims to review the research progress of ERCC6 gene SNP.