人类次黄嘌呤-鸟嘌呤磷酸核糖转移酶1基因与莱施-奈恩病：HGprt酶蛋白中丙氨酸取代甘氨酸及反之情况。
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
作者信息
Nguyen Khue Vu, Naviaux Robert K, Nyhan William L
机构信息
a Department of Medicine , Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego , San Diego , CA , USA.
b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
出版信息
Nucleosides Nucleotides Nucleic Acids. 2017 Feb;36(2):151-157. doi: 10.1080/15257770.2016.1231319. Epub 2017 Jan 3.
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report three novel independent mutations in the coding region of the HPRT1 gene from genomic DNA of (a) a carrier sister of two male patients with LND: c.569G>C, p.G190A in exon 8; and (b) two LND affected male patients unrelated to her who had two mutations: c.648delC, p.Y216X, and c.653C>G, p.A218G in exon 9. Molecular analysis reveals the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. It allows fast, accurate detection of carriers and genetic counseling.
莱施-奈恩综合征（LND）是一种罕见的X连锁遗传性嘌呤代谢神经遗传疾病，其中次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HGprt）存在缺陷。作者报告了来自以下个体基因组DNA的HPRT1基因编码区的三个新的独立突变：（a）两名患有LND的男性患者的携带者姐妹：第8外显子中的c.569G>C，p.G190A；以及（b）与她无关的两名患有LND的男性患者，他们有两个突变：第9外显子中的c.648delC，p.Y216X和c.653C>G，p.A218G。分子分析揭示了导致HGprt缺乏的HPRT1基因突变的异质性。它有助于快速、准确地检测携带者并进行遗传咨询。
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