Analyses of SNPs on various human gene loci and their forensic applications

我们报道了P血型和KEL血型的无效突变。我们还报道了人磷酸葡萄糖变位酶3与N-乙酰葡糖胺磷酸突变酶1相同。此外，我们研究了DNA序列的变化都在1.3 kb的启动子区域16.5 kb远离密码子192和1.7 kb的区域集中在192 Q/R多态性位点的编码区的PON 1。启动子和1.7 kb区域之间的多态性位点对的数量显着的连锁不平衡是在日本人口比非洲和欧洲人口高得多。此外，三个群体间的连锁不平衡多态位点对也存在差异。这些结果表明，与冠心病风险相关的一些人群差异可以通过PON 1单倍型频率的人群差异来解释。我们发现了一个多态性的新的短串联重复序列位于1.8 kb的人类分泌基因（FUT 2）的最后一个外显子的下游。STR基因座的测序分析显示，在科桑人和高加索人群中都有较高的微变异，而在日本人群中显示出简单的重复结构。在人分泌型FUT 2和FUT 2/01基因座之间观察到连锁不平衡。此外，科桑人群体具有高水平的单倍型多样性，并与高加索人和日本人群体共享单倍型（提交）。我们还研究了最大的编码外显子（外显子11）（约3.4 kb）的BRCA 1等位基因多态性的直接测序在人类和黑猩猩群体。结果表明，一种选择，群体结构和/或群体瓶颈可能是负责BRCA 1多态性的产生。

We reported the null mutations for P blood group and KEL blood group. We also reported that human phosphoglucomutase 3 is identical to N-acetylglucosamine-phosphate mutase1. In addition, we examined DNA sequence variation both in a 1.3-kb promoter region 16.5 kb away from codon 192 and in a 1.7-kb region centered on the 192Q/R polymorphic site of the coding region of PON1. The number of pairs of polymorphic sites between the promoter and 1.7-kb regions that were in significant linkage disequilibrium was much higher in a Japanese population than in African and European populations. In addition, the pairs of polymorphic sites in linkage disequilibrium differed among the three populations. These results suggest that some of the population differences in association with risk for coronary heart disease can be explained by population differences in haplotype frequency of PON1 haplotypes (submitted). We found a polymorphic novel short tandem repeat located 1.8 kb downstream of the last exon of the human secretor gene (FUT2). Sequencing analysis of the STR locus revealed high microvariation both in Xhosan and Caucasian populations, whereas exhibited simple repeat structure in Japanese population. Linkage disequilibrium between the human secretor FUT2 and the FUT2/01 loci was observed. In addition, the Xhosan population has high levels of haplotype diversity and share haplotypes both from Caucasian and Japanese populations (submitted). We also examined the largest coding exon (exon 11) (about 3.4 kb) of the BRCA1 for allelic polymorphism by direct sequencing in human and chimpanzee populations. The results suggested that a kind of selection, population structure and/or population bottleneck might be responsible for the generation of the BRCA1 polymorphism.