Mutation frequencies of the cytochromeCYP2D6 gene in Parkinson disease patients and in families

✍ Scribed by Lucotte, G.; Turpin, J.-C.; Gérard, N.; Panserat, S.; Krishnamoorthy, R.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 436 KB
• Volume: 67
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960726)67:4<361::aid-ajmg8>3.0.co;2-p

✦ Synopsis

The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, 0, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy 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 significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy; but frequency of the mutations was slightly enhanced after ageat-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees. @