Determination of allele frequency in pooled DNA samples is a powerful and efficient tool for large-scale association studies. In this study, we tested and compared three PCR-based methods for accuracy, reproducibility, cost, and convenience. The methods compared were: (i) real-time PCR with allele-specific primers, (ii) real-time PCR with allele-specific TaqMan probes, and (iii) quantitative se...

Introduction: The TP53 and CHEK2 genes have been described as breast cancer susceptibility some of their polymorphisms associated with an increased risk in certain populations.Aim: objective this study was to investigate the p.R72P PIN3 Ins16bp (TP53) I157T (CHEK2) mutation developping cancer. Methods: This case-control had enrolled 144 participants including 65 cases (breast patients) 79 contr...

In this study, we developed an allele-specific polymerase chain reaction-microarray (AS PCR-microarray) chip to perform the allele-specific gene amplification and microarray-based detection on a single wafer to identify Korean indigenous beef cattle, called Hanwoo. For allele-specific discrimination and amplification, Hanwoo-specific ten homozygous single nucleotide polymorphism (SNP) sites wer...

The detection of single nucleotide polymorphisms (SNPs) is becoming increasingly important in both the evaluation of candidate gene polymorphisms and fine mapping studies (4,7). Many techniques exist for the detection of SNPs within random sequences, such as single-strand conformation polymorphism (SSCP) (5,6), heteroduplex analysis and direct sequencing, but few techniques specifically identif...