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目的：检测1个着色性干皮病家系的XPA和XPC基因突变。方法收集1个着色性干皮病家系的临床资料，采集先证者及其家庭成员的外周血标本，提取外周血白细胞中的DNA，采用PCR反应扩增XPA和XPC所有外显子编码区及其侧翼序列，通过对PCR反应产物直接测序进行序列分析。结果该着色性干皮病家系未发现XPA和XPC的致病性基因突变。结论尽管XPA和XPC是国内比较常见的着色性干皮病亚型，但该家系可能属于其他的亚型。“,”Objectives To identify pathogenic mutation of the XPA and XPC gene in one familial cases of xeroderma pigmentosum. Methods We col ected blood samples and clinical data from one familial cases of xeroderma pigmentosum.Genomic DNA was extracted from peripheral blood.Al the coding exons and exon-intron flanking sequences of XPA and XPC gene were amplified by polymerase chain reaction and products were analyzed by direct sequencing. Results No XPA and XPC pathogenic mutation was found in this family with xeroderma pigmentosum. Conclusions Although XPA and XPC is a more common subtypes with xeroderma pigmentosum in the domestic,but this family may be other subtypes.