Letellier S J, Hunter J B, Aster R H
Blood Center of Southeastern Wisconsin, Inc., Milwaukee 53233.
Am J Hematol. 1988 Nov;29(3):139-43. doi: 10.1002/ajh.2830290304.
Studies of the inheritance of the platelet-specific alloantigens PlA1/PlA2 and Baka/Bakb in informative families provided evidence that the genes determining PlA and Bak antigens are in close genetic linkage (P = .004). In 154 normal, unrelated Caucasian subjects it was found that the antigen PlA1 is associated with Baka and the antigen PlA2 with Bakb more often than would be expected by chance (P less than .05). Bak and PlA antigens are carried on platelet membrane glycoproteins IIb and IIIa, respectively, which are decreased or absent in the inherited platelet disorder Glanzmann's thrombasthenia. Thus, the findings suggest that the defect in this disease involves two closely linked genes.
对信息充分的家系中血小板特异性同种抗原PlA1/PlA2和Baka/Bakb遗传情况的研究提供了证据,表明决定PlA和Bak抗原的基因存在紧密的遗传连锁关系(P = 0.004)。在154名正常、无亲缘关系的白种人受试者中发现,抗原PlA1与Baka相关,抗原PlA2与Bakb相关,其出现频率高于偶然预期(P小于0.05)。Bak和PlA抗原分别存在于血小板膜糖蛋白IIb和IIIa上,在遗传性血小板疾病Glanzmann血小板无力症中,这些糖蛋白减少或缺失。因此,这些发现表明该疾病的缺陷涉及两个紧密连锁的基因。