Jazwinska E C, Serjeantson S W
Human Genetics Department, John Curtin School of Medical Research, Canberra, Australia.
Dis Markers. 1988 Jul-Sep;6(3):173-83.
HLA-DR and -DQ restriction fragment length polymorphisms (RFLPs) were examined in Melanesian leprosy patients and controls from New Caledonia. This permitted DNA subtyping of DQw1, a broad serological specificity previously implicated in predisposition to lepromatous leprosy. The DQw1c subtype, found in linkage disequilibrium with DR1, w10, w14, and some Pacific Island variants of DRw6 and DRw8, was significantly reduced in leprosy patients. Since the association between HLA-DR genes and leprosy is not strong, some candidate non-MHC genes for leprosy susceptibility were examined also. T-cell receptor -alpha, -beta, and -gamma gene RFLPs revealed no germ-line defects or major clonal T-cell expansion in either lepromatous or tuberculoid leprosy patients. The human homologue of the murine Ity locus which determines murine susceptibility to Mycobacterium lepraemurium was sought by examining linkage disequilibrium with RFLPs in the human gamma-crystallin genes, since this gene family forms a syntenic group with isocitrate dehydrogenase-1 in both mouse and man and, in the mouse, this cluster is closely linked to the Ity locus. These RFLPs were not associated with leprosy susceptibility in man.
对来自新喀里多尼亚的美拉尼西亚麻风病人和对照者进行了HLA-DR和-DQ限制性片段长度多态性(RFLP)检测。这使得能够对DQw1进行DNA分型,DQw1是一种宽泛的血清学特异性,此前被认为与瘤型麻风易感性有关。在麻风病人中,与DR1、w10、w14以及DRw6和DRw8的一些太平洋岛屿变体呈连锁不平衡的DQw1c亚型显著减少。由于HLA-DR基因与麻风病之间的关联并不强,因此也检测了一些麻风病易感性的候选非MHC基因。T细胞受体-α、-β和-γ基因的RFLP显示,瘤型或结核样型麻风病人均未发现种系缺陷或主要的克隆性T细胞扩增。通过检测与人类γ-晶状体蛋白基因RFLP的连锁不平衡,寻找决定小鼠对鼠麻风分枝杆菌易感性的小鼠Ity基因座的人类同源物,因为该基因家族在小鼠和人类中均与异柠檬酸脱氢酶-1形成一个同线群,并且在小鼠中,该基因簇与Ity基因座紧密连锁。这些RFLP与人类麻风病易感性无关。