CYP2D6: novel genomic structures and alleles.

Pharmacogenet Genomics

Department of Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota, USA.

Published: October 2009

Objective: CYP2D6 is a polymorphic gene. It has been observed to be deleted, to be duplicated and to undergo recombination events involving the CYP2D7 pseudogene and surrounding sequences. The objective of this study was to discover the genomic structure of CYP2D6 recombinants that interfere with clinical genotyping platforms that are available today.

Methods: Clinical samples containing rare homozygous CYP2D6 alleles, ambiguous readouts, and those with duplication signals and two different alleles were analyzed by long-range PCR amplification of individual genes, PCR fragment analysis, allele-specific primer extension assay, and DNA sequencing to characterize alleles and genomic structure.

Results: Novel alleles, genomic structures, and the DNA sequence of these structures are described. Interestingly, in 49 of 50 DNA samples that had CYP2D6 gene duplications or multiplications where two alleles were detected, the chromosome containing the duplication or multiplication had identical tandem alleles.

Conclusion: Several new CYP2D6 alleles and genomic structures are described which will be useful for CYP2D6 genotyping. The findings suggest that the recombination events responsible for CYP2D6 duplications and multiplications are because of mechanisms other than interchromosomal crossover during meiosis.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862371PMC
http://dx.doi.org/10.1097/FPC.0b013e3283317b95DOI Listing

Publication Analysis

Top Keywords

genomic structures
12
alleles genomic
12
cyp2d6
8
recombination events
8
cyp2d6 alleles
8
structures described
8
duplications multiplications
8
alleles
7
genomic
5
cyp2d6 novel
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!