Demarchi Darío A, Mosher M J, Crawford Michael H
Museo de Antropología, Facultad de Filosofia y Humanidades, Universidad Nacional de Córdoba, Córdoba 5000, Argentina.
Am J Hum Biol. 2005 Sep-Oct;17(5):593-600. doi: 10.1002/ajhb.20425.
Apoproteins (also known as apolipoproteins) have been studied extensively because of their role in lipid transport, association between specific genotypes and elevated serum lipid levels, and increased risk of heart disease. There is considerable genetic variation in the geographic distributions of these markers, with a north-south cline of the APOE*4 allele observed in Europe by Lucotte et al. ([1997] Hum Biol 69:253-262). This study compares the frequencies of seven APO (APOA1 -75 bp, APOA1 +83 bp, APOB Ins/Del, APOB XbaI, APOC3 SstI, and APOE) and LPL loci in Mennonite populations from Kansas and Nebraska. In total, 277 individuals were sampled from Goessel, Meridian, Garden View, and Lone Tree in 2002-2004. In addition, DNA samples that were collected in 1981 from Henderson, Nebraska, were genotyped for the seven APO and LPL loci. Of the seven APO and LPL loci tested, only one locus, APOB XbaI, departed significantly from Hardy-Weinberg equilibrium, with an unexpected excess of observed heterozygotes. The frequencies of the several APO loci are unique among the Mennonites, separating them from other European populations. A bidimensional scaling representation of Reynold's co-ancestry distances based on allelic frequencies of the seven APO and LPL markers in five Mennonite congregations fails to represent schematically the known patterns of fission. It is unclear whether the observed patterns are due to selection operating on these loci or whether genetic drift, small populations sizes, or a lack of statistical power of these biallelic loci distort the observed genetic relationship among congregations.
载脂蛋白（也称为脱辅基脂蛋白）因其在脂质运输中的作用、特定基因型与血清脂质水平升高之间的关联以及心脏病风险增加而受到广泛研究。这些标记物的地理分布存在相当大的遗传变异，Lucotte等人（[1997]《人类生物学》69:253 - 262）在欧洲观察到APOE*4等位基因呈南北梯度变化。本研究比较了来自堪萨斯州和内布拉斯加州的门诺派人群中七个载脂蛋白（APOA1 -75 bp、APOA1 +83 bp、APOB Ins/Del、APOB XbaI、APOC3 SstI和APOE）和脂蛋白脂肪酶（LPL）基因座的频率。2002年至2004年期间，总共从戈塞尔、子午线、花园景和孤树采集了277个个体样本。此外，对1981年从内布拉斯加州亨德森采集的DNA样本进行了七个载脂蛋白和LPL基因座的基因分型。在测试的七个载脂蛋白和LPL基因座中，只有一个基因座APOB XbaI显著偏离哈迪 - 温伯格平衡，观察到的杂合子数量意外过多。几个载脂蛋白基因座的频率在门诺派中是独特的，使他们与其他欧洲人群区分开来。基于五个门诺派教会中七个载脂蛋白和LPL标记的等位基因频率的雷诺兹共同祖先距离的二维标度表示未能示意性地呈现已知的分裂模式。尚不清楚观察到的模式是由于对这些基因座的选择作用，还是由于遗传漂变、小群体规模或这些双等位基因座缺乏统计效力扭曲了教会之间观察到的遗传关系。
