Kishimoto T K, Hollander N, Roberts T M, Anderson D C, Springer T A
Cell. 1987 Jul 17;50(2):193-202. doi: 10.1016/0092-8674(87)90215-7.
Leukocyte adhesion deficiency (LAD) is a heritable disease involving deficient expression of three related leukocyte adhesion glycoproteins: LFA-1, Mac-1, and p150,95. These proteins are alpha beta heterodimers containing identical 95,000 dalton beta subunits. Here we demonstrate that the primary defect in LAD is in the beta subunit gene. We identified five distinct beta subunit phenotypes in LAD patients: undetectable beta subunit mRNA and protein precursor; low levels of beta subunit mRNA and precursor; an aberrantly large beta subunit precursor, probably due to an extra glycosylation site; an aberrantly small precursor; and a grossly normal precursor. Mutant beta subunit precursors from LAD patients failed to associate with the LFA-1 alpha subunit. In family studies, inheritance of the aberrant precursors correlates with the known inheritance of the LAD defect.
白细胞黏附缺陷症（LAD）是一种遗传性疾病，涉及三种相关白细胞黏附糖蛋白（淋巴细胞功能相关抗原-1（LFA-1）、巨噬细胞抗原-1（Mac-1）和p150,95）的表达缺陷。这些蛋白质是αβ异二聚体，含有相同的95,000道尔顿β亚基。在此我们证明，LAD的主要缺陷在于β亚基基因。我们在LAD患者中鉴定出五种不同的β亚基表型：无法检测到β亚基mRNA和蛋白质前体；β亚基mRNA和前体水平较低；异常大的β亚基前体，可能是由于额外的糖基化位点；异常小的前体；以及大致正常的前体。LAD患者的突变β亚基前体未能与LFA-1α亚基结合。在家族研究中，异常前体的遗传与已知的LAD缺陷遗传相关。
