| Co-Investigator(Kenkyū-buntansha) |
NAKAJIMA Tamiko Gunma University School of Medicine, Department of Legal Medicine, Assistant, 医学部, 助手 (40008561)
TAKESHITA Haruo Gunma University School of Medicine, Department of Legal Medicine, Lecturer, 医学部, 講師 (90292599)
KISHI Koichiro Gunma University School of Medicine, Department of Legal Medicine, Professor, 医学部, 教授 (30169841)
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| Research Abstract |
1. We have previously found human deoxyribonuclease (DNase) II to be a genetic marker present in semen. In this study, we succeeded in cloning of both the complementary and genomic DNAs encoding human DNase II. Furthermore, regional localization of the gene (DNASE2) to 19p13.2-p13.1 was achieved by FISH analysis. This is the first report of the cloning and characterization of the cDNA and gene for mammalian DNase II.
2. DNase II levels in human vary depending on whether the individual has the DNASE2ィイD1*ィエD1H or ィイD1*ィエD1L allele. The transient transfection luciferase analysis of the DNase II gene expression permit us to conclude that the A-75G transition in the proximal promoter region causes the allelic difference in the promoter activity of the gene, underlying its genetic polymorphism.
3. Human DNase II was composed of three non-identical subunits. From site-directed mutagenesis study, it was found that a simultaneous attachment of a carbohydrate moiety, proteolytic cleavage and the
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inherent signal peptide might be required for subcellular sorting and maturation of the enzyme.
4. Since two new alleles, DNASEIィイD1*ィエD15 and ィイD1*ィエD16, of human DNase I polymorphism were identified, DNase I-polymorphism can be classified into 21 different phenotypes. These findings permit the ability of DNase I-polymorphism in personal identification to be further elevated. The type 6 isoenzyme was the first type to be shown to be labile.
5. The findings that Caucasian and Negroid populations were classified into several DNase I phenotypes found DNase -polymorphism to be world-wide. Furthermore, we found a geographical north-south decline in DNase I 2 allele frequency in Japanese populations.
6. Two short tandem repeat systems, HumTPO and HumLPL, were investigated in Japanese populations by means of newly developed genotyping method. Duplex typing of these systems were found to be very powerful in forensic utility.
Considering these findings made in this research project, both DNases I and II have been confirmed to be one of the most useful and effective genetic markers suited for personal identification from forensic semen samples. Less
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