Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders
HM Lachman, DF Papolos, T Saito, YM Yu…�- Pharmacogenetics�…, 1996 - journals.lww.com
Abstract Catechol-O-methyltransferase (COMT) inactivates catecholamines and catechol
drugs such as L-DOPA. A common genetic polymorphism in humans is associated with a
three-to-fourfold variation in COMT enzyme activity and is also associated with individual
variation in COMT thermal instability. We now show that this is due to G-[right pointing
guillemet] A transition at codon 158 of the COMT gene that results in a valine to methionine
substitution. The two alleles can be identified with a PCR-based restriction fragment length�…
drugs such as L-DOPA. A common genetic polymorphism in humans is associated with a
three-to-fourfold variation in COMT enzyme activity and is also associated with individual
variation in COMT thermal instability. We now show that this is due to G-[right pointing
guillemet] A transition at codon 158 of the COMT gene that results in a valine to methionine
substitution. The two alleles can be identified with a PCR-based restriction fragment length�…