Kwiatkowska J, Slomski R, Jozwiak S, Short M P, Kwiatkowski D J
Experimental Medicine Division, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Genomics. 1997 Sep 15;44(3):350-4. doi: 10.1006/geno.1997.4874.
XPMC2 is a Xenopus gene identified on the basis of its ability to correct a mitotic defect in fission yeast. Here we report the identification of cDNA clones for human XPMC2H, its mapping to the tuberous sclerosis gene TSC1 region on 9q34, determination of genomic structure, and identification of several coding region polymorphisms. The predicted protein has strong sequence similarity to the Xenopus gene. Through SSCP and heteroduplex analysis of genomic DNA, we found two intragenic polymorphisms but no evidence for significant mutations in patients with tuberous sclerosis in this gene.
XPMC2是一种非洲爪蟾基因，它是根据其纠正裂殖酵母有丝分裂缺陷的能力而被鉴定出来的。在此我们报告人类XPMC2H的cDNA克隆的鉴定、其在9号染色体长臂34区结节性硬化症基因TSC1区域的定位、基因组结构的确定以及几个编码区多态性的鉴定。预测的蛋白质与非洲爪蟾基因有很强的序列相似性。通过对基因组DNA的单链构象多态性（SSCP）和异源双链分析，我们发现了两个基因内多态性，但没有证据表明该基因在结节性硬化症患者中有显著突变。
