Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families
- CHR, Reims (France)
- INSERM, Paris (France); and others
The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, 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 age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees. 25 refs., 1 fig., 2 tabs.
- OSTI ID:
- 539388
- Journal Information:
- American Journal of Medical Genetics, Vol. 67, Issue 4; Other Information: PBD: 26 Jul 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
56 BIOLOGY AND MEDICINE
APPLIED STUDIES
MUTATION FREQUENCY
AGE DEPENDENCE
NERVOUS SYSTEM DISEASES
ETIOLOGY
PATIENTS
HEREDITARY DISEASES
PHENOTYPE
GENOTYPE
CYTOCHROMES
GENE MUTATIONS
TOXINS
BIOLOGICAL EFFECTS
DRUGS
METABOLISM
HYDROXYLASES
RFLPS
POLYMERASE CHAIN REACTION
STATISTICS