Rapaport F T, Bach F H, Bachvaroff R J, McCarthy J G, Raisbeck A P, Egelandsdal B, Converse J M
Department of Surgery, State University of New York at Stony Brook, Health Sciences Center, New York 11794, USA.
Tissue Antigens. 1979 Nov;14(5):407-21. doi: 10.1111/j.1399-0039.1979.tb00869.x.
Study of the incidence and segregation of the serologically detectable A and B products of the HLA complex in 140 family units in which one or more offspring was afflicted with a developmental craniofacial anomaly has uncovered no evidence of an association between HLA-A or B antigens or haplotypes and the malformations under study. Further analysis of HLA-D products in the same family units by the mixed leukocyte culture (MLC) technique has, however, uncovered a relatively high incidence of non-reactivity between the cells of one (or both) parent(s) and cells of some offspring in 41 of the 140 families included in this study. The parent couples involved in this finding were unrelated and generally did not share any HLA-SD haplotypes. When this finding was studied further by Primed LD Typing techniques, the results in six families suggested that such MLC non-reactivity is a consequence of the sharing of LD alleles by each pair of parents in these families. The known polymorphism of the HLA-D locus (or loci) and the low incidence of comparable findings in the normal population suggest that LD allele sharing in this particular population may be related to the selection of certain particular HLA-D products in families afflicted with developmental craniofacial anomalies. This result may be relevant to the possible existence in man of an analogue of the murine T/t complex which may occur in linkage with the HLA complex, in the same manner as the linkage disequilibrium which is been documented between the t complex and H-2 in chromosome 17 of the mouse.
对140个家庭单位进行研究，这些家庭中一个或多个后代患有发育性颅面异常，研究其中可通过血清学检测到的HLA复合体的A和B产物的发生率及分离情况，未发现HLA - A或B抗原或单倍型与所研究的畸形之间存在关联。然而，通过混合淋巴细胞培养（MLC）技术对同一家庭单位中的HLA - D产物进行进一步分析发现，在本研究纳入的140个家庭中的41个家庭里，一位（或双亲）的细胞与一些后代的细胞之间存在相对较高的无反应性发生率。涉及这一发现的父母对无亲缘关系，且通常不共享任何HLA - SD单倍型。当通过启动的LD分型技术对这一发现进行进一步研究时，六个家庭的结果表明，这种MLC无反应性是这些家庭中每对父母共享LD等位基因的结果。已知的HLA - D位点（或多个位点）的多态性以及正常人群中类似发现的低发生率表明，在患有发育性颅面异常的家庭中，这种特定人群中的LD等位基因共享可能与某些特定HLA - D产物的选择有关。这一结果可能与人类中可能存在的类似于小鼠T/t复合体的物质有关，该物质可能与HLA复合体连锁，就如同在小鼠17号染色体上t复合体与H - 2之间记录的连锁不平衡一样。
