Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain

Xeroderma pigmentosum (XP) is an autosomal recessive disease, characterized by a high incidence of sunlight-induced skin cancer. Cells from people with this condition are hypersensitive to ultraviolet because of a defect in DNA repair. There are nine genetic complementation groups of XP, groups A-H and a variant. We have cloned the mouse DNA repair gene that complements the defect of group A, the XPAC gene. Here we report molecular cloning of human and mouse XPAC complementary DNAs. Expression of XPAC cDNA confers ultraviolet-resistance on several group A cell lines, but not on lines of other XP groups. Almost all group A lines tested showed abnormality or absence of XPAC messenger RNAs. These results indicate that a defective XPAC gene causes group A XP. The human and mouse XPAC genes are located on chromosome 9q34.1 and chromosome 4C2, respectively. Human XPAC cDNA encodes a protein of 273 amino acids with a zinc-finger motif.     

应用液态悬浮芯片技术建立HPV基因分型方法

目的 应用液态悬浮芯片技术,建立一种新的人乳头瘤病毒(HPV)基因分型方法.方法 应用通用引物从HPV基因组中扩增出目的片断,与13型荧光微球偶联探针杂交,通过LuminexTM100检测HPV的型别.结果 检测十三型标准株质粒,对单一标准品和混合标准品均可准确分型.结论 初步建立了高通量、快速、可靠、适用于临床的人乳头瘤病毒分型基因诊断方法.