MUTATION FREQUENCIES OF THE CYTOCHROME CYP2D6 GENE IN PARKINSON DISEASE PATIENTS AND IN FAMILIES

The frequencies of five mutations of the debrisoquine 4-hydroxylase (C YP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor me tabolizer (PM) phenotypes, were determined by restriction fragment len gth polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 pati ents with Parkinson disease, and compared with the findings in 47 heal thy controls, These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2. 12 (95% confidence interval, 1.41-2.62), There seem to be no significa nt differences in frequencies of mutant genotypes in patients among ge nder and modalities of response with levodopa therapy; but frequency o f the mutations was slightly enhanced after age-at-onset of 60 years, Mutations D6-B, D, and T were detected in 7 patients belonging to 10 P arkinson pedigrees. (C) 1996 Wiley-Liss, Inc.