Open AccessDevelopment of Pyrosequencing Method for Detection of UGT1A1 Polymorphisms in Thai Colorectal Cancers
Author(s) -
Sukasem Chonlaphat,
Atasilp Chalirmporn,
Chansriwong Pichai,
Chamnanphon Montri,
Puangpetch Apichaya,
Sirachainan Ekapob
Publication year - 2016
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.21820
Subject(s) - pyrosequencing , genotyping , irinotecan , genotype , allele , biology , colorectal cancer , allele frequency , genetics , population , medicine , cancer , gene , environmental health
Background UGT1A1 is a polymorphic enzyme that has been associated with irinotecan drug metabolisms. We developed a pyrosequencing method to detect allele frequency and genotype of UGT1A1 polymorphisms ( UGT1A1*28 and UGT1A1*6 ) in Thai colorectal cancer patients. Method A pyrosequencing method was designed to determine UGT1A1 genetic polymorphisms including UGT1A1*28 (A[TA]7TAA) and UGT1A1*6 (211G>A) in 91 Thai colorectal cancers. Result Genotyping by the pyrosequencing technique was 100% concordant with capillary electrophoresis sequencing. The allele frequencies for UGT1A1 genetic polymorphisms were *1 / *1 (54.95%), *1/*6 (13.19%), *1/*28 (25.27%), *28/*6 (4.40%), and *28/*28 (2.20%). No homozygous mutation UGT1A1*6 was found in our population. Conclusions We developed a rapid, reliable, more cost‐effective, and simple assay to detect UGT1A1 genetic polymorphisms in routine practice before initiating irinotecan therapy. The UGT1A1*28 and UGT1A1*6 alleles were found to be similar in the Asian populations.