LESCH-NYHAN SYNDROME AND RELATED METABOLIC DISORDERS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 目的：研究伴有Lesch-Nyhan综合征等疾病的高尿酸血症患者体内的嘌呤代谢。研究HGPRT的变异酶、基因和发现HGPRT的患者的表型。[目的]研究高尿酸血症患者代谢异常的性质及其分子定位，并应用杂合子检测方法研究Lesch-Nyhan综合征的传播和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.