Skoda U, Goldmann S F, Händler C, Hummel K, Lechler E, Lübcke I, Mauff G, Meyer-Börnecke D, Pesch S, Pulverer G
Hygiene-Institut der Universität Köln, BRD.
Vox Sang. 1988;54(4):210-4. doi: 10.1111/j.1423-0410.1988.tb03907.x.
The accumulation of the homozygous plasminogen (PLG) variant A3 in 4 siblings of a family led to the detection of 5 cases of apparent inverse homozygosity of PLG phenotypes which seemed to exclude paternity. Determination of 22 blood group markers and HLA typing, but under exclusion of PLG phenotypes, confirmed paternity in all cases (biostatistical probability of paternity greater than 99.9985%). Comparing the results of 'Western blots' with functional-caseinolytic phenotyping, the existence of inactive plasmin, as described earlier, could be excluded. Besides inverse homozygosity the assumption of a silent allele was confirmed by reduction of PLG antigenic levels and functional activities to approximately 50% of normal range. The PLG phenotype A in 1 individual with anamnestic thrombosis, reduced values of PLG antigen, and reduced functional activity, although in accordance with Mendelian inheritance, was also considered as indicative for PLG hemizygosity.
一个家族中4名兄弟姐妹出现纯合子纤溶酶原（PLG）变体A3的累积，导致检测到5例PLG表型明显的反向纯合子情况，这似乎排除了亲子关系。在排除PLG表型的情况下，对22种血型标记物进行测定和HLA分型，证实所有病例均为亲子关系（亲子关系的生物统计学概率大于99.9985%）。将“蛋白质印迹法”结果与功能性酪蛋白溶解表型分析结果进行比较，如前所述，可以排除无活性纤溶酶的存在。除了反向纯合子外，通过将PLG抗原水平和功能活性降低至正常范围的约50%，证实了沉默等位基因的存在。1例有既往血栓形成史、PLG抗原值降低和功能活性降低的个体中出现的PLG表型A，尽管符合孟德尔遗传规律，但也被认为是PLG半合子的指征。
