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将第三个嘌呤生物合成基因（甘氨酰胺核糖核苷酸转甲酰基酶）定位于人类21号染色体。

Assignment of a third purine biosynthetic gene (glycinamide ribonucleotide transformylase) to human chromosome 21.

作者信息

Hards R G, Benkovic S J, Van Keuren M L, Graw S L, Drabkin H A, Patterson D

出版信息

Am J Hum Genet. 1986 Aug;39(2):179-85.

PMID:3529945
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683921/
Abstract

Using a series of human-hamster hybrid cell lines, a gene coding for glycinamide ribonucleotide transformylase was mapped to human chromosome 21. The availability of hybrids containing only portions of chromosome 21 allowed the gene to be assigned to the region between the q11.2 and the q22.2 bands, inclusive. Differentiation of human and hamster glycinamide ribonucleotide transformylase was accomplished via an immunoprecipitation assay that employed a polyclonal antibody raised against the human enzyme.

摘要

利用一系列人-仓鼠杂交细胞系，将编码甘氨酰胺核糖核苷酸转甲酰基酶的基因定位到人类21号染色体上。仅包含21号染色体部分片段的杂交细胞系，使得该基因被定位到q11.2和q22.2带之间的区域（包括这两个带）。通过使用针对人源酶产生的多克隆抗体的免疫沉淀试验，实现了人和仓鼠甘氨酰胺核糖核苷酸转甲酰基酶的区分。

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Am J Hum Genet. 1986 Aug;39(2):179-85.
2
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3
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本文引用的文献

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Serum uric acid in mongolism.蒙古症中的血清尿酸
Science. 1962 Sep 14;137(3533):868-9. doi: 10.1126/science.137.3533.868.
2
L(-)-10-Formyltetrahydrofolate is the cofactor for glycinamide ribonucleotide transformylase from chicken liver.L(-)-10-甲酰四氢叶酸是鸡肝中甘氨酰胺核糖核苷酸转甲酰酶的辅因子。
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Assignment of the gene coding for phosphoribosylglycineamide formyltransferase to human chromosome 14.编码磷酸核糖甘氨酰胺甲酰基转移酶的基因定位于人类第14号染色体。
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Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21.通过体细胞遗传学证明，定位于人类21号染色体上的嘌呤合成途径中两种酶的基因存在协同调控。
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5
Gene dosage effect for glycinamide ribonucleotide synthetase in human fibroblasts trisomic for chromosome 21.21号染色体三体的人成纤维细胞中甘氨酰胺核糖核苷酸合成酶的基因剂量效应。
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Hyperuricemia in Down's syndrome.唐氏综合征中的高尿酸血症。
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Clearance of uric acid, urea, and creatinine in Down's syndrome.唐氏综合征患者尿酸、尿素和肌酐的清除率
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Hu-ets-1 and Hu-ets-2 genes are transposed in acute leukemias with (4;11) and (8;21) translocations.Hu-ets-1和Hu-ets-2基因在伴有(4;11)和(8;21)易位的急性白血病中发生易位。
Science. 1986 Jan 24;231(4736):379-82. doi: 10.1126/science.3941901.