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The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

作者信息

Lightfoot T, Joshi R, Nuki G, Snyder F F

机构信息

Department of Paediatrics, University of Calgary, Alberta, Canada.

出版信息

Hum Genet. 1992 Mar;88(6):695-6. doi: 10.1007/BF02265300.

DOI:10.1007/BF02265300
PMID:1551676
Abstract

The change in DNA responsible for partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in three brothers has been determined by polymerase chain amplification and sequencing. An A-to-G substitution at base 155 in exon 3 predicts a change in aspartic acid 52 to glycine. Allele-specific polymerase chain amplification verified the presence of the mutation in genomic DNA and provides a means of direct diagnostic assay.

摘要

相似文献

1
The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.
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2
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引用本文的文献

1
Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio).一个患有莱施-奈恩综合征的日本家庭的分子遗传学研究：RNA剪接共有区域的一个点突变（HPRTKeio）
Jpn J Hum Genet. 1993 Dec;38(4):413-9. doi: 10.1007/BF01907988.
2
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症：日本莱施 - 奈恩综合征和遗传性痛风患者点突变的鉴定及其在HPRT缺陷小鼠细胞系中的永久表达。
Hum Genet. 1994 Feb;93(2):175-81. doi: 10.1007/BF00210606.

本文引用的文献

1
Human hypoxanthine-guanine phosphoribosyltransferase.人类次黄嘌呤-鸟嘌呤磷酸核糖转移酶
J Biol Chem. 1983 May 25;258(10):6458-60.
2
Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.人次黄嘌呤磷酸核糖基转移酶全长可表达cDNA的分离与鉴定
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Organization of the HPRT gene and related sequences in the human genome.人类基因组中次黄嘌呤磷酸核糖基转移酶（HPRT）基因及相关序列的组织
Somat Cell Mol Genet. 1984 Sep;10(5):483-93. doi: 10.1007/BF01534853.
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A specific enzyme defect in gout associated with overproduction of uric acid.痛风中与尿酸生成过多相关的一种特定酶缺陷。
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An integrated family of amino acid sequence analysis programs.一个氨基酸序列分析程序的集成家族。
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A method for specific cloning and sequencing of human hprt cDNA for mutation analysis.一种用于人hprt cDNA特异性克隆和测序以进行突变分析的方法。
Biochem Biophys Res Commun. 1988 Feb 29;151(1):487-92. doi: 10.1016/0006-291x(88)90619-5.
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Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.三名痛风患者兄弟中的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症：一种变体HPRTEdinburgh的特征，该变体具有改变的等电点、增加的热不稳定性和正常水平的信使核糖核酸。
J Inherit Metab Dis. 1989;12(4):390-402. doi: 10.1007/BF01802034.
9
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.使用热稳定DNA聚合酶进行引物引导的DNA酶促扩增。
Science. 1988 Jan 29;239(4839):487-91. doi: 10.1126/science.2448875.
10
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
Genomics. 1991 Jun;10(2):499-501. doi: 10.1016/0888-7543(91)90341-b.