Redefining copy number variation and single-nucleotide polymorphism counting via novel concepts based on recent PCR enhancements.

Abstract

Abstract Human genes exist as numerous copy number variations (CNV) and single-nucleotide polymorphisms (SNP) that exert control over the majority of the bodies’ core functions. By virtue of numerous genome-wide association studies (GWAS), we now know that CNVs and SNPs can coexist in certain genomic regions, amplifying expression, regulation, and susceptibility effects. Because of the significant impact of CNVs and SNPs, research groups worldwide have eagerly sought an adequate method for measuring both simultaneously only to end as measured separately. To overcome the current limitations, we developed a polymerase chain reaction (PCR) based novel approach which combines primers designed by the STexS method with multiplex probes used in the STexS II method. The method successfully measured both CNVs and SNPs of CYP2A6 and CYP2A7 in a single quantitative polymerase chain reaction (qPCR). Further testing of 100 human genomic DNA samples enabled calculation of the overall frequency of [T] and [G] components within an East Asian population, yielding results that were not only highly congruent with a previous NIH database, but also correcting it. The novel method should redefine genetic profiling and could provide a means to not only successfully predict one’s genetic characteristics, but further enhance personalized medicine and individualized treatments.