| Autor: |
Douglas, A. M., Atchison, B. A., Somogyi, A. A., Drummer, Olaf H. |
| Zdroj: |
Pharmacogenetics; June 1994, Vol. 4 Issue: 3 p154-158, 5p |
| Abstrakt: |
The debrisoquine-4-hydroxylase polymorphism is a genetic variation in oxidative drug metabolism characterized by two phenotypes, the extensive metabolizer (EM) and poor metabolizer (PM). The 4‘-hydroxylation of debrisoquine is mediated by CYP2D6, and the polymorphism, inherited as an autosomal recessive trait, is a clinically important defect affecting 5–10 of individuals in Caucasian populations (Brosen & Gram, 1989). The absence of CYP2D6 activity in PM livers is caused by one of several molecular defects (Heim & Meyer, 1990). A point mutation at the 3’-splice site of intron 3 (CYP2D6(B)mutation), a single nucleotide (A) deletion in exon 5 (CYP2D6(A)mutation) and a CYP2D6gene deletion all lead to defective mRNA and/or protein and thus, a deficiency in CYP2D6 activity. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
