Lesch-Nyhan 综合征：经酶证实存在 HPRT 缺乏但 HPRT 的 DNA 编码区正常的患者的 HPRT mRNA 表达。
Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
机构信息
Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, San Diego, CA 92103-8467, USA.
出版信息
Mol Genet Metab. 2012 Aug;106(4):498-501. doi: 10.1016/j.ymgme.2012.06.003. Epub 2012 Jun 19.
Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNV). We report a case of two LNS affected members of a family with deficiency of activity of HPRT in intact cultured fibroblasts in whom mutation could not be found in the HPRT coding sequence but there was markedly decreased HPRT expression of mRNA.
嘌呤补救酶次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）的遗传突变导致 Lesch-Nyhan 综合征（LNS）或 Lesch-Nyhan 变体（LNV）。我们报告了一例 LNS 受影响的家系，其完整培养的成纤维细胞中 HPRT 活性缺乏，但在 HPRT 编码序列中未发现突变，而 HPRT mRNA 的表达明显降低。
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