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首页> 外文期刊>Drug metabolism and drug interactions >Variation and evolution of the ABC transporter genes ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8: implication for pharmacogenetics and disease.
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Variation and evolution of the ABC transporter genes ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8: implication for pharmacogenetics and disease.

机译：ABC转运蛋白基因ABCB1，ABCC1，ABCG2，ABCG5和ABCG8的变异和进化：对药物遗传学和疾病的影响。

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Abstract The ATP-binding cassette (ABC) transporter genes are ubiquitous in the genomes of all vertebrates. Some of these transporters play a key role in xenobiotic defense and are endowed with the capacity to efflux harmful toxic substances. A major role in the evolution of the vertebrate ABC genes is played by gene duplication. Multiple gene duplication and deletion events have been identified in ABC genes, resulting in either gene birth or gene death indicating that the process of gene evolution is still ongoing in this group of transporters. Additionally, polymorphisms in these genes are linked to variations in expression, function, drug disposition and drug response. Single nucleotide polymorphisms in the ABC genes may be considered as markers of individual risk for adverse drug reactions or susceptibility to complex diseases as they can uniquely influence the quality and quantity of gene product. As the ABC genes continue to evolve, globalization will yield additional migration and racial admixtures that will have far reaching implications for the pharmacogenetics of this unique family of transporters in the context of human health.
机译：摘要ATP结合盒（ABC）转运蛋白基因在所有脊椎动物的基因组中普遍存在。这些转运蛋白中的一些在异源生物防御中起着关键作用，并具有排出有害有毒物质的能力。基因复制在脊椎动物ABC基因的进化中起主要作用。已经在ABC基因中鉴定出多个基因重复和缺失事件，导致基因出生或基因死亡，这表明在这组转运蛋白中基因进化的过程仍在进行中。此外，这些基因的多态性与表达，功能，药物配置和药物反应的变化有关。 ABC基因中的单核苷酸多态性可被认为是药物不良反应或对复杂疾病的易感性的个体风险标记，因为它们可以独特地影响基因产物的质量和数量。随着ABC基因的不断发展，全球化将带来更多的迁徙和种族融合，这对于人类健康背景下这一独特的转运蛋白家族的药物遗传学将产生深远的影响。

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