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Genes 2017, 8(10), 285; doi:10.3390/genes8100285

Novel Tetra-Primer ARMS-PCR Assays for Thiopurine Intolerance Susceptibility Mutations NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C) in East Asians

Department of Clinical Pathology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China
These authors contributed equally to this work.
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Author to whom correspondence should be addressed.
Received: 19 September 2017 / Revised: 18 October 2017 / Accepted: 18 October 2017 / Published: 23 October 2017
(This article belongs to the Section Human Genomics and Genetic Diseases)
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Abstract

Thiopurines are clinically useful in the management of diverse immunological and malignant conditions. Nevertheless, these purine analogues can cause lethal myelosuppression, which may be prevented by prospective testing for variants in the thiopurine S-methyltransferase (TPMT) and, in East Asians, Nudix hydrolase 15 (NUDT15) genes. Two single-tube, tetra-primer amplification refractory mutation system polymerase chain reaction (ARMS-PCR) assays were developed to genotype the common loss-of-function variants NUDT15 c.415C>T (rs116855232) and TPMT*3C c.719A>G (rs1142345). In a group of 60 unselected patients, one and seven were found to be homozygous and heterozygous, respectively, for NUDT15 c.415C>T; one was found to be heterozygous for TPMT*3C c.719A>G. There was no non-specific amplification, and the genotypes were 100% concordant with Sanger sequencing. Limit-of-detection for both assays was below 1 ng of heterozygous template per reaction. Time- and cost-effective ARMS-PCR assays, suitable for genotyping East-Asian patients for thiopurine intolerance, were successfully developed and validated. View Full-Text
Keywords: Asian; NUDT15; TPMT*3C; low-cost; genotyping; amplification-refractory mutation system; pharmacogenetic; rs1142345; rs116855232; sequencing; thiopurine intolerance Asian; NUDT15; TPMT*3C; low-cost; genotyping; amplification-refractory mutation system; pharmacogenetic; rs1142345; rs116855232; sequencing; thiopurine intolerance
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Ho, C.-C.; Fong, W.-Y.; Lee, Y.-H.; Poon, W.-T. Novel Tetra-Primer ARMS-PCR Assays for Thiopurine Intolerance Susceptibility Mutations NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C) in East Asians. Genes 2017, 8, 285.

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