Hammarström L, de Lange G G, Smith C I
Department of Clinical Immunology, Karolinska Institute, Huddinge Hospital, Sweden.
J Immunogenet. 1987 Aug-Oct;14(4-5):197-201. doi: 10.1111/j.1744-313x.1987.tb00381.x.
IgA2 allotyping was performed on DNA from 60 IgA-deficient Caucasian individuals. The frequency of A2m(2) was not statistically different from that of normal controls. Two informative families were selected for further studies. In both families, the A2m(2) allotype (derived from the IgA-deficient parent) was inherited by some of the children, as determined by Southern blotting experiments. In all cases the 'silent' IgA2m2 gene was re-expressed, as judged by conventional serological allotyping of serum proteins. These data strongly argue against structural gene deletions or mutations as a cause of IgA deficiency.
对60名IgA缺乏的高加索个体的DNA进行了IgA2别型分析。A2m(2)的频率与正常对照无统计学差异。选择了两个信息丰富的家系进行进一步研究。在这两个家系中,通过Southern印迹实验确定,一些孩子继承了(来自IgA缺乏亲本的)A2m(2)别型。在所有情况下,根据血清蛋白的传统血清学别型分析判断,“沉默”的IgA2m2基因都重新表达了。这些数据有力地反驳了结构基因缺失或突变是IgA缺乏原因的观点。