Single tube genotyping of TYMS 1494del6 polymorphism in the Chinese Han population by duplex scorpion primers

• Published in: Experimental and molecular pathology Vol. 96; no. 3; pp. 269 - 273
• Main Authors: Liu, Jin-hui, Wang, Ting, Zhou, Wen-jing, Pang, Cong, Wang, Le, Chen, Chao, Dai, Peng-gao
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Inc 01.06.2014
• Subjects: Alleles; Asian Continental Ancestry Group - genetics; DNA Primers; Duplex scorpion primers; Genotype; Genotyping Techniques - methods; High-Throughput Nucleotide Sequencing; Humans; Polymorphism, Genetic; Sequence Analysis, DNA; Thymidylate Synthase - genetics; TYMS 1494del6 polymorphism; Duplex scorpion primers; TYMS 1494del6 polymorphism; Genotype
• ISSN: 0014-4800; 1096-0945
• DOI: 10.1016/j.yexmp.2014.03.006

The development of pharmacogenomics has created an urgent need for robust molecular characterization. And it has become a challenge to develop suitable detecting methods for routine clinical use. The aim of the current study is to develop a simple and reliable TYMS 1494del6 polymorphism genotyping assay by duplex scorpion primers in the Chinese Han population. We evaluated the performance of the duplex scorpion primer assay in the genotyping of TYMS 1494del6 polymorphism and screened 54 DNA samples of the Chinese Han population. The results were further validated by pyrosequencing. The duplex scorpion primer assay showed high specificity and accuracy for genotyping TYMS 1494del6 polymorphism. Complete concordance was observed between the duplex scorpion primer assay and pyrosequencing. The frequency of the TYMS +6bp allele was 34% and the −6bp allele was 66% in 54 Chinese Han population DNA samples. The duplex scorpion primer assay provides a rapid, reliable and high-throughput method to genotype TYMS 1494del6 polymorphism in the Chinese Han population.