人类次黄嘌呤磷酸核糖基转移酶（HPRT）基因的新型突变

Novel mutations in the human HPRT gene.

作者信息

Nguyen Khue Vu, Naviaux Robert K, Paik Kacie K, Nyhan William L

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, California 92103-8467, USA.

出版信息

Nucleosides Nucleotides Nucleic Acids. 2011 Jun;30(6):440-5. doi: 10.1080/15257770.2011.588187.

DOI:10.1080/15257770.2011.588187

PMID:21780909

Abstract

Inherited mutation of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT), gives rise to Lesch-Nyhan Syndrome (LNS) or HPRT-related gout. Here, we report five novel independent mutations in the coding region of the HPRT gene from five unrelated male patients manifesting different clinical phenotypes associated with LNS: exon 2: c.133A > G, p.45R > G; c.35A > C, p.12D > A; c.88delG; exon 7: c.530A > T, p.177D > V; and c.318 + 1G > C: IVS3 + 1G > C splice site mutation.

摘要

嘌呤补救酶次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）的遗传性突变会导致莱施-奈恩综合征（LNS）或与HPRT相关的痛风。在此，我们报告了来自五名无亲缘关系男性患者的HPRT基因编码区的五个新的独立突变，这些患者表现出与LNS相关的不同临床表型：外显子2：c.133A>G，p.45R>G；c.35A>C，p.12D>A；c.88delG；外显子7：c.530A>T，p.177D>V；以及c.318+1G>C：IVS3+1G>C剪接位点突变。

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