Gadzicki D, Müller-Vahl K, Stuhrmann M
Institut für Humangenetik, Medizinische Hochschule, Hannover, D-30625, Germany.
Mol Cell Probes. 1999 Aug;13(4):321-3. doi: 10.1006/mcpr.1999.0249.
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 Msp I restriction site in amplified wild-type DNA (G-allele), which is destroyed by the silent mutation (A-allele). The intragenic CNR1 polymorphism 1359(G/A) should be useful for association studies in neuro psychiatric disorders which may be related to anandamide metabolism disturbances.
中枢大麻素受体（CB1）介导大麻、内源性激动剂花生四烯乙醇胺及多种合成激动剂的药理活性。人类大麻素受体（CNR1）基因的克隆有助于对诸如抽动秽语综合征（GTS）、强迫症（OCD）、帕金森病、阿尔茨海默病或其他可能因CNR1基因突变或变异而诱发或受其影响的神经精神或神经疾病进行分子遗传学研究。我们在CNR1基因第453密码子（苏氨酸）处检测到一个常见的沉默突变（1359G→A），结果表明这是德国人群中的一种常见多态性。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（G等位基因）中人工创建一个Msp I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，该位点会因沉默突变（A等位基因）而被破坏。基因内的CNR1多态性1359（G/A）应有助于对可能与花生四烯乙醇胺代谢紊乱相关的神经精神疾病进行关联研究。
