Kimura-Kataoka Kaori, Yasuda Toshihiro, Fujihara Junko, Toga Tomoko, Ono Rei-Ichiro, Otsuka Yosuke, Ueki Misuzu, Iida Reiko, Kato Hideaki, Takeshita Haruo
Department of Legal Medicine, Shimane University School of Medicine, Izumo, Shimane, Japan.
Leg Med (Tokyo). 2013 May;15(3):157-60. doi: 10.1016/j.legalmed.2012.10.002. Epub 2012 Nov 30.
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.
我们聚焦于14个单核苷酸多态性（SNP），包括脱氧核糖核酸酶II基因（DNASE2）中所有非同义的和与自身免疫相关的SNP。使用新开发的聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，在八个亚洲人群、三个非洲人群、三个墨西哥人群和两个高加索人群中检测了这些SNP中每个等位基因和单倍型的分布。九个非同义SNP中的八个是单态的，这表明在这些SNP中产生具有完整活性的脱氧核糖核酸酶II的特定等位基因在全球人群中得到了很好的保守。另一方面，其他五个与自身免疫相关的SNP（-1951G>A、-1066G>C、-390A>C、+2630T>C和+6235G>C）在全球人群中表现出常见的多态性，尤其是它们的分布与单倍型一样具有种族依赖性。此外，在大多数人群中证实了SNP -1951G>A和-1066G>C之间存在强连锁。这项研究首次报告了关于DNASE2中所有非同义的和与自身免疫相关的SNP的全球人群分析，提供了关于DNASE2作为个人识别的遗传标记和/或自身免疫易感性遗传因素的遗传信息。
