对英国白人人群中异喹胍氧化遗传多态性的家系及群体研究。
A family and population study of the genetic polymorphism of debrisoquine oxidation in a white British population.
作者信息
Evans D A, Mahgoub A, Sloan T P, Idle J R, Smith R L
出版信息
J Med Genet. 1980 Apr;17(2):102-5. doi: 10.1136/jmg.17.2.102.
Abstract
A population survey of 258 unrelated white British subjects showed a polymorphism for the 4-oxidation of debrisoquine. "Extensive metabolisers" (EM) and "poor metabolisers" (PM) are recognisable, 8.9% of the population being PM. Nine pedigrees ascertained through PM probands show that the PM phenotype is an autosomal Mendelian recessive character. The EM phenotype is dominant and the degree of dominance has been estimated at 30%. PM subjects are more prone to hypotension during debrisoquine therapy. The alleles controlling this polymorphism appear to control the oxidation of other drugs.
摘要
对258名无亲缘关系的英国白人进行的群体调查显示，异喹胍4-氧化存在多态性。可识别出“快代谢者”（EM）和“慢代谢者”（PM），人群中8.9%为慢代谢者。通过慢代谢者先证者确定的9个家系表明，慢代谢者表型是常染色体孟德尔隐性性状。快代谢者表型是显性的，显性程度估计为30%。慢代谢者在接受异喹胍治疗期间更容易出现低血压。控制这种多态性的等位基因似乎也控制着其他药物的氧化。
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