Identification of the primary gene defect at the cytochrome P450 CYP2D locus.

摘要: The mammalian cytochrome P450-dependent monooxygenase system is involved in the metabolism of drugs and chemical carcinogens. role these enzymes toxicological response exemplified by an autosomal recessive polymorphism at P450 CYP2D6 debrisoquine hydroxylase locus which results severely compromised least 25 drugs, some cases can lead to life-threatening side-effects. In addition, this polymorphism, affects 8-10% caucasian population, has been associated with altered susceptibility lung bladder cancer. Here we report identification primary mutation responsible for metabolic defect development a simple DNA-based genetic assay allow both most individuals risk drug side-effects clarification conflicting reports on association cancer susceptibility.