Mechanism of abnormalities in clinical laboratory data by analysis of epigenome, genome and miRome

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Even genuinely Le-negative patients, who genetically lack the Le enzyme and theoretically never produce CA19-9, occasionally show a slight increase in serum CA19-9 level. We analyzed this mechanism and found the phenomena are occurred when the patients are homozygous for Se-negative genotypes and suffer from advanced cancer with overproduction of glycans as precursors of CA19-9.The human genome is composed of large-scale compartmentalized structures, including replication-timing zones and long-range GC% mosaic structures, which are related to chromosome bands. We found that the early/late-switch regions of replication timing, which generally correspond with transitions in GC content, are correlated with R/G-chromosome band boundaries, and such specific regions in the human genome correspond to "unstable" regions of the genome in which increased DNA damage occurs. Information acquired through genome-wide studies of replication timing will contribute substantially to our understanding of the molecular mechanisms in the pathogenesis of diseases.