Harrison Harold H, Ober Carole, Miller Kathy L, Elias Sherman
Department of Pathology, The University of Chicago Pritzker School of Medicine, Chicago, Illinois 60637.
Obsterics and Gynecology, The University of Chicago Pritzker School of Medicine, Chicago, Illinois 60637.
Am J Hum Biol. 1991;3(6):639-646. doi: 10.1002/ajhb.1310030614.
High-resolution, two-dimensional electrophoresis (2DE) was used to examine allele frequencies in eight serum protein marker systems and to screen for rare or previously undescribed alleles in 152 members of the Schmiedeleut branch of the Hutterite Brethren. The results include the first report of α -HS glycoprotein, apolipoprotein E, and SPPM-158 frequencies and haptoglobin 1F and 2S subtype frequencies in the Hutterites. Designed as part of ongoing genetic studies in this reproductively isolated population, this study was done to determine which markers might correlate with medical features or could be useful in population studies. Prior studies of erythrocyte surface and enzymatic markers, lymphocyte surface and enzymatic markers, and serum proteins by other investigators have identified common, rare, and private markers in approximately 40 polymorphic systems. This study included five serum protein markers that were not examined in previous studies. The study identified a 2DE marker, SPPM-158, that was later confirmed in other populations to be a ubiquitous serum protein polymorphism. Allele frequencies for α -HS glycoprotein, apolipoprotein E, group-specific globulin, haptoglobin, SPPM-158, α -antitrypsin, apolipoprotein A-IV, and transferrin are presented. The first five of these had allele frequencies useful for population studies. We did not find any rare or private variants with 2DE in these systems. Overall, the 2DE data were in good agreement with prior studies in the Hutterites and relevant European populations.
高分辨率二维电泳（2DE）被用于检测八个血清蛋白标记系统中的等位基因频率，并在哈特莱特兄弟会施米德莱特分支的152名成员中筛查罕见或先前未描述的等位基因。结果包括首次报告哈特莱特人中α-HS糖蛋白、载脂蛋白E和SPPM-158的频率以及触珠蛋白1F和2S亚型的频率。作为对这个生殖隔离群体正在进行的基因研究的一部分，本研究旨在确定哪些标记可能与医学特征相关或可用于群体研究。其他研究人员此前对红细胞表面和酶标记、淋巴细胞表面和酶标记以及血清蛋白的研究已经在大约40个多态系统中鉴定出常见、罕见和特有的标记。本研究包括五个先前研究中未检测的血清蛋白标记。该研究鉴定出一个2DE标记SPPM-158，后来在其他群体中得到证实，它是一种普遍存在的血清蛋白多态性。文中给出了α-HS糖蛋白、载脂蛋白E、群体特异性球蛋白、触珠蛋白、SPPM-158、α-抗胰蛋白酶、载脂蛋白A-IV和转铁蛋白的等位基因频率。其中前五个标记的等位基因频率对群体研究有用。我们在这些系统中未发现2DE检测到的任何罕见或特有变异。总体而言，2DE数据与此前对哈特莱特人和相关欧洲人群的研究结果高度一致。
