High-throughput analysis of informative CYP2D6 compound haplotypes.


Journal Article

We describe a high-throughput protocol for detecting key polymorphisms in the drug-metabolizing enzyme gene CYP2D6 and a number of linked microsatellites that is both fast and relatively inexpensive to perform. This approach employs GeneScan technology to enable a researcher to determine rapidly the status of seven simple nucleotide polymorphisms in CYP2D6 and also to assay repeat number variation at five closely linked dinucleotide microsatellite loci. The method requires only three PCRs and two GeneScan runs per sample. We anticipate that this will be of value to researchers in three different ways: (1) rapid discrimination of common CYP2D6 alleles, (2) high-resolution haplotyping for association studies involving chromosome 22q13.1 using microsatellite variation, and (3) generation of compound haplotypes for investigating the evolution of CYP2D6 variation. We also report compound haplotype frequencies for an Ashkenazi Jewish and a British sample.

Full Text

Cited Authors

  • Fletcher, B; Goldstein, DB; Bradman, ALR; Weale, ME; Bradman, N; Thomas, MG

Published Date

  • February 2003

Published In

Volume / Issue

  • 81 / 2

Start / End Page

  • 166 - 174

PubMed ID

  • 12620394

Pubmed Central ID

  • 12620394

Electronic International Standard Serial Number (EISSN)

  • 1089-8646

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1016/s0888-7543(02)00031-9


  • eng