LESCH-NYHAN SYNDROME AND RELATED DISORDERS OF PURINE METABOLISM

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。研究伴有Lesch-Nyhan综合征和其他疾病的高尿酸血症患者的嘌呤代谢。表征变异的HGPRT酶、基因和患者的表型。探讨HGPRT以外的高尿酸血症患者代谢异常的性质及其分子位点，利用杂合子检测研究Lesch-Nyhan综合征的传播及x连锁致死基因的突变率。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. To study metabolism of purines in patients with hyperuricemia who have the Lesch-Nyhan syndrome and other disorders. To characterize variant HGPRT enzymes, genes and the phenotypes of patients in whom they are found. To characterize the nature of metabolic abnormality and its molecular site in patients with hyperuricemias other than those involving HGPRT and to study transmission of Lesch-Nyhan syndrome and the mutation rate for x-linked lethal gene using heterozygote detection.