Resolving Discordant CYP2D6 Genotyping Results in Thai Subjects: Platform Limitations and Novel Haplotypes

Several Luminex xTAG genotype calls were identified as inconsistent or suspicious among Thai subjects and further characterized to identify the root causes. Forty-eight subjects were followed-up with long-range-PCR, quantitative copy number assays and/or Sanger sequencing. Most of the Luminex-duplic...

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Published inPharmacogenomics Vol. 22; no. 9; pp. 529 - 541
Main Authors Hongkaew, Yaowaluck, Wang, Wendy Y, Gaedigk, Roger, Sukasem, Chonlaphat, Gaedigk, Andrea
Format Journal Article
LanguageEnglish
Published England Future Medicine Ltd 01.06.2021
Subjects
Alleles
Cytochrome P-450 CYP2D6 - genetics
DNA Copy Number Variations - genetics
Genotyping Techniques - methods
Haplotypes - genetics
Humans
Methodology
Multiplex Polymerase Chain Reaction
Polymerase Chain Reaction
Thailand
Thailand
Thai
CYP2D6
Luminex xTAG
risperidone
genotype
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Summary:Several Luminex xTAG genotype calls were identified as inconsistent or suspicious among Thai subjects and further characterized to identify the root causes. Forty-eight subjects were followed-up with long-range-PCR, quantitative copy number assays and/or Sanger sequencing. Most of the Luminex-duplication calls were either negative or had hybrid structures involving in various configurations. Ten samples were inaccurately called as or alleles. Sequencing revealed three novel haplotypes, and of which two are nonfunctional. The Luminex platform produced a relatively high number of false genotype calls for Thai subjects. Our findings underscore the need for the systematic characterization of the locus in diverse populations and rigorous platform validation.
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Authors contributed equally
ISSN:1462-2416
1744-8042
1744-8042
DOI:10.2217/pgs-2021-0013