An improved assay for genotyping the common Alu insertion in the tissue-type plasminogen activation gene PLAT.

An improved assay for genotyping the common Alu insertion in the tissue-type plasminogen activator (PLAT) locus is described in this report. The assay is a valuable asset to clinical researchers interested in exploring disease associations with this allele. The automation and improved accuracy will facilitate future population-based studies, as well as clinical screening.

Development of a highly accurate, rapid PCR-RFLP genotyping assay for the methylenetetrahydrofolate reductase gene.

The C677T mutation of the methylenetetrahydrofolate (MTHFR) gene is a nutrient-oriented, "eco" genetic mutation that is associated with elevated levels of homocysteine and an increased risk for coronary heart disease. The purpose of this study was to optimize and automate an assay for PCR-restriction fragment length polymorphism (RFLP) genotyping of the MTHFR gene. We developed an automated assay for the PCR-RFLP genotyping of the MTHFR gene.