| dc.contributor | Fujihara, J., Department of Legal Medicine, Shimane University School of Medicine, Shimane, Japan; Yasuda, T., Division of Medical Genetics and Biochemistry, University of Fukui, Fukui, Japan; Iida, R., Division of Life Sciences, Faculty of Medical Sciences, University of Fukui, Fukui, Japan; Kimura-Kataoka, K., Department of Legal Medicine, Shimane University School of Medicine, Shimane, Japan; Soejima, M., Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume, Fukuoka, Japan; Koda, Y., Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume, Fukuoka, Japan; Kato, H., Department of Forensic Medicine, Graduate School of Medical Sciences, Nagoya City University, Aichi, Japan; Panduro, A., Department of Molecular Biology in Medicine, Old Civil Hospital of Guadalajara and Health Sciences Center, University of Guadalajara, Mexico; Yuasa, I., Department of Legal Medicine, Tottori University Graduate School of Medicine, Tottori, Japan; Takeshita, H., Department of Legal Medicine, Shimane University School of Medicine, Shimane, Japan | |
| dc.description.abstract | Several SNPs in the deoxyribonuclease I-like 1 (DNase 1L1) and DNase 1L2 were investigated. In the present study, the genotype distributions of three synonymous SNPs (V59V, rs1050095; P67P, rs1130929; A277A, rs17849495) in the DNase 1L1 gene and four non-synonymous SNPs, V122I (rs34952165), Q170H (rs6643670), and D227A (rs5987256) in the DNase 1L1 gene, as well as D197A (rs62621282) in the DNase 1L2 gene were investigated in 13 populations. In all the populations, no variation was found in four SNPs (V59V, Q170H, D227A, and A277A) in DNASE1L1 or in D197A in DNASE1L2. As for V122I, only the German population showed a low degree of polymorphism. The SNP V122I in DNASE1L1 was monoallelic for the G-allele in all of the Asian and African populations examined, with no polymorphism being evident. Since the A-allele in SNP V122I was distributed in only the Caucasian populations, not in the other ethnic groups, it was confirmed that the A-allele in SNP V122I was Caucasian-specific. On the other hand, only P67P in DNASE1L1 was polymorphic among three synonymous SNPs. The effect of nucleotide substitution corresponding to polymorphic SNP P67P on DNase 1L1 activity was examined: the corresponding nucleotide substitution in polymorphic SNP P67P has little effect on the DNase activity. © 2010 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim. | |
