title: Distribution and haplotype analysis of all the non-synonymous and autoimmunity-related single nucleotide polymorphisms in the human deoxyribonuclease II gene using worldwide populations.
abstract: We have focused on the 14 SNPs including all the non-synonymous and autoimmunity-related ones in the DNase II gene (DNASE2). The distribution of each allele and haplotype in these SNPs was examined in eight Asian, three African, three Mexican and two Caucasian populations using the newly developed PCR-RFLP methods. Eight SNPs among nine non-synonymous ones were monomorphic, indicating that a specific allele generating the intact activity-harboring DNase II in these SNPs is well conserved in worldwide populations. On the other hand, five other SNPs (-1951G>A, -1066G>C, -390A>C, +2630T>C, and +6235G>C) related to autoimmunity exhibited polymorphism common in worldwide populations, and especially their distributions were ethnic-dependent in the same manner as those of haplotypes. Furthermore, a strong linkage between SNPs -1951G>A and -1066G>C was confirmed in most populations. This study was the first to report any worldwide population analysis regarding all the non-synonymous and autoimmunity-related SNPs in the DNASE2, providing genetic information on the DNASE2 as a genetic marker for personal identification and/or genetic factor for susceptibility to autoimmunity.
authors.affiliation: Department of Legal Medicine, Shimane University School of Medicine, Izumo, Shimane, Japan.
authors.forename: Kaori
authors.initials: K
authors.lastname: Kimura-Kataoka
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Yasuda
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.forename: Tomoko
authors.initials: T
authors.lastname: Toga
authors.forename: Rei-Ichiro
authors.initials: R
authors.lastname: Ono
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Otsuka
authors.forename: Misuzu
authors.initials: M
authors.lastname: Ueki
authors.forename: Reiko
authors.initials: R
authors.lastname: Iida
authors.forename: Hideaki
authors.initials: H
authors.lastname: Kato
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
mesh_terms: D015551:Autoimmunity / Q000235:genetics*; D004706:Endodeoxyribonucleases / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics
chemical_list: D004706:Endodeoxyribonucleases; C019329:deoxyribonuclease II