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

我们报道了P血型和Kel血型的零突变。我们还报道了人磷酸葡萄糖变位酶3与N-乙酰氨基葡萄糖-磷酸变位酶1的同源性。此外，我们还检测了远离192密码子的1.3kb启动子区域和以PON1编码区192Q/R多态区域为中心的1.7kb区域的DNA序列变异。在日本群体中，启动子和1.7kb区域之间处于显著连锁不平衡的多态位点对的数量远远高于非洲和欧洲群体。此外，3个群体间连锁不平衡的多态位点对也不尽相同。这些结果表明，与冠心病风险相关的一些群体差异可以通过PON1单倍型的单倍型频率的群体差异来解释(提交的)。我们发现了一个位于人类分泌物基因(FUT2)最后一个外显子下游1.8kb的多态新的短串联重复序列。对STR基因座的测序分析表明，科桑人和高加索人都有很高的微变异，而日本人群体表现出简单的重复结构。人类分泌物FUT2和FUT2/01基因座之间存在连锁不平衡。此外，科桑种群具有高度的单倍型多样性，并且共享来自高加索和日本种群的单倍型(提交)。我们还通过直接测序检测了BRCA1的最大编码外显子(外显子11)(约3.4kb)在人类和黑猩猩群体中的等位基因多态性。结果提示，BRCA1基因多态的产生可能与某种选择、群体结构和/或群体瓶颈有关。

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.