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Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.

作者信息

Gathof B S, Sahota A, Gresser U, Chen J, Stambrook P J, Tischfield J A, Zöllner N

机构信息

Medizinische Poliklinik, Universität München.

出版信息

Klin Wochenschr. 1990 Dec 30;69(24):1152-5. doi: 10.1007/BF01815434.

DOI:10.1007/BF01815434
PMID:2135300
Abstract

We examined the molecular basis of adenine phosphoribosyltransferase (APRT) deficiency in homozygous-deficient, identical twin brothers who were born to non-consanguineous German parents. DNA was isolated from blood, and the APRT gene was amplified by PCR, subcloned into M13, and sequenced completely. A single T insertion between bases 1831-1832 or 1832-1833 was identified. This alters the consensus sequence at the exon 4 - intron 4 spice donor site and leads to aberrant splicing. The same mutation has been described previously in two affected brothers from Belgium, and the Indianapolis group has also identified it in two other, unrelated Caucasian patients. Thus, this mutation may be a common cause of APRT deficiency in the Caucasian population.

摘要

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本文引用的文献

1
Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants.功能性人腺嘌呤磷酸核糖转移酶（APRT）基因的克隆：限制性片段长度多态性的鉴定以及来自 APRT 缺陷家族和细胞突变体的 DNA 的初步分析。
Somat Cell Mol Genet. 1984 Jul;10(4):359-67. doi: 10.1007/BF01535631.
2
HCC ligation: rapid and specific DNA construction with blunt ended DNA fragments.肝癌连接：利用平端DNA片段进行快速且特异性的DNA构建。
Nucleic Acids Res. 1986 Dec 22;14(24):10118. doi: 10.1093/nar/14.24.10118.
3
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
人腺嘌呤磷酸核糖转移酶。核苷酸水平上等位基因突变作为该酶完全缺乏的原因的鉴定。
J Clin Invest. 1987 Nov;80(5):1409-15. doi: 10.1172/JCI113219.
4
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.人类腺嘌呤磷酸核糖转移酶缺乏症。日本人群中常见单一突变等位基因的证明。
J Clin Invest. 1988 Mar;81(3):945-50. doi: 10.1172/JCI113408.
5
New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency.2,8 - 二羟基腺嘌呤结石症的新诊断与治疗方面。另一例腺嘌呤磷酸核糖转移酶完全缺乏症。
Eur Urol. 1988;14(6):493-7. doi: 10.1159/000473018.
6
2,8-Dihydroxyadeninuria: laboratory diagnosis and therapy control.2,8-二羟基腺嘌呤尿症：实验室诊断与治疗监测
Urol Int. 1988;43(3):174-8. doi: 10.1159/000281332.
7
Sph I restriction fragment length polymorphism on human chromosome 16 detected with an APRT gene probe.用一个APRT基因探针检测人类16号染色体上的Sph I限制性片段长度多态性。
Nucleic Acids Res. 1987 Nov 25;15(22):9615. doi: 10.1093/nar/15.22.9615.
8
[2,8-dihydroxyadenine urinary calculus: the significance of exact physical calculus analysis].[2,8 - 二羟基腺嘌呤尿路结石：精确物理结石分析的意义]
Urologe A. 1989 Nov;28(6):361-2.
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Adv Exp Med Biol. 1989;253A:461-5. doi: 10.1007/978-1-4684-5673-8_75.
10
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