The CYP2D6 gene locus in South African Coloureds: unique allele distributions, novel alleles and gene arrangements.

European Journal of Clinical Pharmacology
A Gaedigk, Christa Coetsee

Abstract

The highly polymorphic CYP2D6 gene locus has been extensively scrutinised in the major ethnic populations, but little is known about the locus for many indigenous and unique admixed populations, including the Coloureds of South Africa. This study aimed at characterising the CYP2D6 gene locus in Coloured subjects and predict their phenotype status. CYP2D6 genotyping was performed on 99 Coloured subjects by long-range polymerase chain reaction (PCR) and PCR restriction fragment length polymorphism (RFLP). Testing included 25 allelic variants as well as gene duplications. Novel alleles were cloned and sequenced. A novel strategy for CYP2D7/2D6 hybrid gene detection is described. Thirteen alleles had a frequency of = 1%, three were infrequent (<1%) and 16 of the tested alleles were not detected. CYP2D6*5 had a frequency of 17.2%, one of the highest ever observed in any population. Two novel alleles, CYP2D6*64 and *65, were identified. In addition, four samples carried CYP2D7/2D6 hybrid genes, of which one matched the CYP2D6*66 allele of a resequenced Caucasian control subject. CYP2D6*66 is similar to CYP2D6*16, but its putative recombination point is further upstream. Genotyping identified three poor metabolisers (3%; predicted inc...Continue Reading

References

Aug 1, 1996·Pharmacogenetics·I JohanssonM Ingelman-Sundberg
Apr 16, 2002·Drug Metabolism and Disposition : the Biological Fate of Chemicals·Kenda A MarcucciAndrea Gaedigk
Aug 2, 2002·Clinical Pharmacology and Therapeutics·Andrea GaedigkJ Steven Leeder
Nov 18, 2003·Naunyn-Schmiedeberg's Archives of Pharmacology·Ulrich M ZangerMichel Eichelbaum
Sep 20, 2005·Biochemical and Biophysical Research Communications·Andrea GaedigkJ Steven Leeder
Nov 8, 2005·Drug Metabolism and Pharmacokinetics·Tsuyoshi FukudaJunichi Azuma
Jan 13, 2006·Annual Review of Pharmacology and Toxicology·Alison E AitkenEdward T Morgan
Jan 18, 2006·Drug Metabolism and Disposition : the Biological Fate of Chemicals·Andrea GaedigkJ Steven Leeder
Jan 12, 2007·Basic & Clinical Pharmacology & Toxicology·Edoardo Spina, Jose de Leon
Jan 30, 2007·Clinical Pharmacology and Therapeutics·A GaedigkJ Steven Leeder
May 2, 2007·Drug Metabolism and Disposition : the Biological Fate of Chemicals·Hongwu ShenChuan Li
Nov 1, 2007·Clinical Pharmacology and Therapeutics·A GaedigkJ S Leeder

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Citations

Dec 6, 2011·Archives of Pharmacal Research·Im-Soon Lee, Donghak Kim
Aug 8, 2012·Pharmacogenetics and Genomics·Sarah C SimAndrea Gaedigk
Jul 16, 2011·Drug Metabolism and Drug Interactions·Werner Cordier, Vanessa Steenkamp
Dec 22, 2011·Drug Metabolism and Pharmacokinetics·Lay Kek Teh, Leif Bertilsson
Aug 18, 2010·Pharmacogenomics·Britt I DrögemöllerLouise Warnich
Mar 12, 2011·Pharmacogenomics·Alejandra V ContrerasIrma Silva-Zolezzi
Feb 19, 2014·Pharmacogenomics·Marco Alessandrini, Michael S Pepper
Oct 25, 2013·International Review of Psychiatry·Andrea Gaedigk
Mar 5, 2014·Expert Opinion on Drug Metabolism & Toxicology·Collet DandaraCollen Masimirembwa
Jun 12, 2009·Drug Metabolism Reviews·Shu-Feng ZhouBalram Chowbay
Apr 18, 2013·Drug Metabolism Reviews·Marco AlessandriniMichael Sean Pepper
Oct 16, 2014·Expert Opinion on Drug Metabolism & Toxicology·Adrián LLerenaEduardo Tarazona-Santos
Jul 6, 2010·Ageing Research Reviews·Davide SeripaAlberto Pilotto
Mar 20, 2009·Clinica Chimica Acta; International Journal of Clinical Chemistry·Duc L NguyenWerner Steimer
Mar 5, 2016·Applied & Translational Genomics·Tyren M DodgenMichael S Pepper
Jul 19, 2011·Clinical Biochemistry·Payiarat SuwannasriChanin Limwongse
Jan 4, 2017·Human Mutation·Henk P J BuermansTahar van der Straaten
Dec 10, 2014·Drug Metabolism and Drug Interactions·Carolina Céspedes-GarroUNKNOWN CEIBA Consortium of the Ibero-American Network of Pharmacogenetics and Pharmacogenomics RIBEF
Dec 15, 2015·AIDS Research and Human Retroviruses·Carola R RöhrichLouise Warnich
Jul 23, 2021·Science Translational Medicine·Maaike van der LeeSeyed Yahya Anvar

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