DNA haplotype dependency of debrisoquine 4-hydroxylase (CYP2D6) expression among extensive metabolisers
作者： C. Mura , S. Panserat , M. Vincent-Viry , M. M. Galteau , E. Jacqz-Aigrain
DOI: 10.1007/BF01247337
关键词:
摘要: Deficient debrisoquine/sparteine type oxidation is inherited as an autosomal recessive trait. Of all Caucasians, 5–10% are poor metabolisers, due to the absence of cytochrome P4502D6. Extensive metabolisers (EMs) exhibit highly variable metabolic activity. We investigated relationship between CYP2D6 activity and genotypes CYP2D locus in a large set French Caucasian families. Genotypes concern both common mutations affecting enzyme linkedBamHI polymorphisms locus. found, like other authors, that EMs part heterogeneity explained by subgroup individuals heterozygous for mutant allele. However, second level was detected among not carrying mutations, this related polymorphicBamHI-defined DNA haplotype. Different combinations haplotypes associated with differences This finding might help clarify conflicting data on relation susceptibility lung cancer.
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