A frequent polymorphism in the coding exon of the human cannabinoid receptor (CNR1) gene
A frequent polymorphism in the coding exon of the human cannabinoid receptor (CNR1) gene
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DOI：
10.1006/mcpr.1999.0249
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发表时间：
1999-08-01
影响因子：
3.3
通讯作者：
Stuhrmann, M
中科院分区：
文献类型：
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作者：
Gadzicki, D;Müller-Vahl, K;Stuhrmann, M
中枢大麻素受体 (CB1) 介导大麻、内源性激动剂 anandamide 和几种合成激动剂的药理活性。人类大麻素受体 (CNR1) 基因的克隆促进了吉尔德拉抽动秽语综合征 (GTS)、强迫症 (OCD)、帕金森病、阿尔茨海默病或其他神经精神或神经系统疾病等疾病的分子遗传学研究，这些疾病可能易受 CNR1 基因突变或变异的影响。我们在 CNR1 基因的密码子 453 (Thr) 中检测到频繁的沉默突变 (1359G-->A)，结果证明这是德国人群中常见的多态性。该多态性的等位基因频率分别为 0.76 和 0.24。我们通过在扩增的野生型 DNA（C 等位基因）中人工创建 Msp1 限制性位点，开发了一种简单快速的基于聚合酶链反应 (PCR) 的检测方法，该位点被沉默突变（A 等位基因）破坏。基因内 CNR1 多态性 1359(G/A) 应可用于可能与 anandamide 代谢紊乱相关的神经精神疾病的关联研究。 (C) 1999 年学术出版社。
The central cannabinoid receptor (CB1) mediates the pharmacological activities of cannabis, the endogenous agonist anandamide and several synthetic agonists. The cloning of the human cannabinoid receptor (CNR1) gene facilitates molecular genetic studies in disorders like Gilles de la Tourette syndrome (GTS), obsessive compulsive disorder (OCD), Parkinsons disease, Alzheimers disease or other neuro psychiatric or neurological diseases, which may be predisposed or influenced by mutations or variants in the CNR1 gene. We detected a frequent silent mutation (1359G-->A) in codon 453 (Thr) of the CNR1 gene that turned out to be a common polymorphism in the German population. Allele frequencies of this polymorphism are 0.76 and 0.24, respectively. We developed a simple and rapid polymerase chain reaction (PCR)-based assay by artificial creation of a Mspl restriction site in amplified wild-type DNA (C-allele), which is destroyed by the silent mutation (A-allele). The intragenic CNR1 polymorph ism 1359(G/A) should be useful for association studies in neuro psychiatric disorders which may be related to anandamide metabolism disturbances. (C) 1999 Academic Press.