| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Outline of Final Research Achievements |
Previously we reported a case of hypoapoC-II with severe hypertriglyceridemia without any mutation in the coding region of the APOC2 gene. Whole genome sequencing revealed a rearrangement around the APOC2 gene. Southern blot hybridization analysis, array CGH analysis, and breakpoint analysis supported the result. Because same results were also shown in another case and a founder haplotype was detected by SNP genotyping of these patients, we proposed that the “hypoapoC-II” was derived from a structural abnormality around APOC2 gene. It is supposed partial tandem duplication of APOC2 gene including proximal promoter region may cause transcriptional defects of the gene.
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