Taylor G M, Braddock D, Robson A J, Fergusson W D, Duckett D P, D'Souza S W, Brenchley P
Immunogenetics Laboratory, St Mary's Hospital, Manchester, UK.
Clin Exp Immunol. 1990 Sep;81(3):501-6. doi: 10.1111/j.1365-2249.1990.tb05363.x.
Monosomy 21 (M21) is a rare aneuploid condition which in certain cases leads to reduced levels of chromosome 21 gene products. We have prepared an Epstein-Barr virus lymphoblastoid cell-line (LCL) from patient with M21 who has immunological abnormalities, and analysed the expression of lymphocyte function-associated antigen-1 (LFA-1). This heterodimeric leucocyte integrin consists of CD11a (alpha) subunits non-covalently associated with CD18 (beta) subunits coded, respectively, by genes on chromosomes 16 and 21. To determine whether monosomy 21 results in decreased expression of LFA-1, monoclonal antibodies were used to compare the expression of CD11a and CD18 on the M21 LCL with LCL from trisomy 21 (Down's syndrome, T21), normal controls and a possible case of leucocyte adhesion deficiency. In addition, phorbol-ester-induced homotypic adhesion, an LFA-1-mediated effect, was compared in these LCLs. The results are consistent with a gene dosage mediated reduction of LFA-1 expression by the M21 LCL.
21号染色体单体(M21)是一种罕见的非整倍体疾病,在某些情况下会导致21号染色体基因产物水平降低。我们从患有免疫异常的M21患者身上制备了一株爱泼斯坦-巴尔病毒淋巴母细胞系(LCL),并分析了淋巴细胞功能相关抗原-1(LFA-1)的表达。这种异二聚体白细胞整合素由分别与16号和21号染色体上的基因编码的CD11a(α)亚基和CD18(β)亚基非共价结合组成。为了确定21号染色体单体是否导致LFA-1表达降低,使用单克隆抗体比较了M21 LCL上CD11a和CD18的表达与21号染色体三体(唐氏综合征,T21)、正常对照以及可能的白细胞黏附缺陷病例的LCL上的表达。此外,还比较了这些LCL中佛波酯诱导的同型黏附,这是一种LFA-1介导的效应。结果与M21 LCL通过基因剂量介导降低LFA-1表达一致。