人类谷氨酸受体基因的染色体定位

Chromosomal localization of human glutamate receptor genes.

作者信息

McNamara J O, Eubanks J H, McPherson J D, Wasmuth J J, Evans G A, Heinemann S F

机构信息

Department of Veterans Affairs Medical Center, Durham, NC.

出版信息

J Neurosci. 1992 Jul;12(7):2555-62. doi: 10.1523/JNEUROSCI.12-07-02555.1992.

DOI:10.1523/JNEUROSCI.12-07-02555.1992

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6575855/

Abstract

The chromosomal localization of human glutamate receptor genes (GluR1-4) has been established using PCR with DNA isolated from mapping panels of Chinese hamster-human hybrid cell lines and high-resolution fluorescent in situ suppression hybridization. This was accomplished with genomic clones containing putative human homologs of rat GluR 1-4 isolated by high-stringency screening of a cosmid library with the rat cDNAs encoding GluR1-4. The locations of GluR1-4, respectively, are 5q32-33, 4q32-33, Xq25-26, and 11q22-23. Evidence implicating glutamatergic synapses in a diversity of physiologic and pathologic processes together with concordance of the chromosomal locales and results of linkage analyses establishes GluR3 and GluR4 as candidate genes for a number of nervous system disorders including the oculocerebral-renal syndrome of Lowe and a form of manic-depressive illness.

摘要

利用从中国仓鼠-人杂交细胞系定位板中分离的DNA进行聚合酶链反应（PCR）以及高分辨率荧光原位抑制杂交，已确定了人类谷氨酸受体基因（GluR1 - 4）的染色体定位。这是通过基因组克隆完成的，这些克隆包含通过用编码GluR1 - 4的大鼠cDNA对黏粒文库进行高严格筛选分离出的大鼠GluR 1 - 4假定人类同源物。GluR1 - 4的位置分别是5q32 - 33、4q32 - 33、Xq25 - 26和11q22 - 23。有证据表明谷氨酸能突触参与多种生理和病理过程，再加上染色体定位与连锁分析结果的一致性，确定GluR3和GluR4是包括洛氏眼脑肾综合征和一种躁郁症在内的多种神经系统疾病的候选基因。

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