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It is almost a half-century since Friedrich Vogel coined the term pharmacogenetics, although the idea that individual response to a drug could have a genetic basis was already well established in the 1950s with, for example, the discovery of pseudocholinesterase deficiency and isoniazid acetylator status. Fifty years on, we know that most drug responses are not regulated in such an overtly Mendelian way with a single dominant gene effect. A current list of genetically determined drug responses would run to several hundreds, but it catalogues gene variants that are usually rare in the general population and have large effects on the protein they encode-often inactivating them.
机译:自弗里德里希·沃格尔(Friedrich Vogel)提出“药物遗传学”一词以来,已有近半个世纪的历史,尽管人们对药物的个体反应可能具有遗传基础的想法在1950年代就已经确立,例如发现了伪胆碱酯酶缺乏症和异烟肼乙酰化剂。五十年来,我们知道大多数药物反应都没有以单一的显性基因效应以明显的孟德尔方式进行调节。目前,由遗传决定的药物反应的清单可能有数百种,但是它列出了通常在一般人群中罕见的基因变体,这些变体对它们编码的蛋白质有很大的影响,通常会使它们失活。

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