Xu P, Zhu X L, Huecksteadt T P, Brothman A R, Hoidal J R
Division of Pulmonary, Critical Care, University of Utah, Salt Lake City 84132.
Genomics. 1994 Sep 1;23(1):289-91. doi: 10.1006/geno.1994.1498.
Xanthine dehydrogenase (XDH, EC 1.1.1.204) oxidizes a variety of purines, pterins, and other heterogenic nitrogen compounds, serving as a rate-limiting enzyme in nucleic acid degradation. The genetic defect of XDH results in hereditary xanthinuria and other disorders in purine metabolism. Based on the cloning and sequencing results of human XDH cDNA in our laboratory, we studied the localization and sublocalization of the XDH gene. A Version 3.0 human-hamster somatic cell hybrid PCRable DNA panel and specific PCR primers derived from human XDH cDNA for amplification were used to assign the XDH gene to human chromosome 2. The fidelity of the PCR product was confirmed by nucleotide sequencing the PCR product. The assignment of the XDH gene to chromosome 2 at band p22 was established by fluorescence in situ hybridization on human metaphase chromosomes using a clone from a pWE 15 cosmid library containing the XDH gene. The results should be useful for further studies of the molecular basis for hereditary xanthinuria and other genetic disorders related to abnormal XDH activity.
黄嘌呤脱氢酶（XDH，EC 1.1.1.204）可氧化多种嘌呤、蝶呤及其他异类氮化合物，是核酸降解中的限速酶。XDH的基因缺陷会导致遗传性黄嘌呤尿症及其他嘌呤代谢紊乱。基于本实验室人XDH cDNA的克隆和测序结果，我们研究了XDH基因的定位和亚定位。使用第3.0版人-仓鼠体细胞杂交可PCR DNA板以及源自人XDH cDNA用于扩增的特异性PCR引物，将XDH基因定位于人类2号染色体。通过对PCR产物进行核苷酸测序，证实了PCR产物的保真度。利用来自包含XDH基因的pWE 15黏粒文库的克隆，通过对人类中期染色体进行荧光原位杂交，确定了XDH基因位于2号染色体p22带。这些结果对于进一步研究遗传性黄嘌呤尿症的分子基础以及与XDH活性异常相关的其他遗传疾病应具有帮助。
