Page A R, Sharp H L, Greenberg L J, Yunis E J
J Clin Invest. 1975 Sep;56(3):530-5. doi: 10.1172/JCI108121.
21 patients with chronic active hapatitis (CAH) and their families were HL-A typed. HL-A8 was significantly increased in frequency. An apparent increased frequency of HL-A1 was shown to be secondary to the increased HL-A8 due to linkage disequilibrium. Genotype analysis revealed a striking increased frequency of homozygosity for HL-A8, 6 of 21 patients (28.5%) vs. 2.8% of controls. Two patients and one normal who were homozygous for both HL-A1 and HL-A8 were found to be homozygous for a mixed lymphocyte culture (MLC) determinant 8a. Homozygous 8a cells were used as test-stimulating cells in one-way MLC reactions to determine the frequency of the expression of the 8a determinant in 17 patients and 49 controls selected for HL-A type. 8a was found to be associated with 50% of HL-A8 haplotypes and was frequent in the patient and control populations of the same HL-A types. These data suggest that susceptibility to CAH is determined by homozygosity for a gene that is in linkage disequilibrium with HL-A8 and more closely associated with the HL-A second locus then with the locus for the major MLC determinant.
对21例慢性活动性肝炎（CAH）患者及其家属进行了HL - A分型。HL - A8的频率显著增加。由于连锁不平衡，HL - A1频率的明显增加被证明是继发于HL - A8频率的增加。基因型分析显示HL - A8纯合子频率显著增加，21例患者中有6例（28.5%），而对照组为2.8%。发现2例患者和1例正常个体同时为HL - A1和HL - A8纯合子，他们也是混合淋巴细胞培养（MLC）决定簇8a的纯合子。在单向MLC反应中，将纯合8a细胞用作测试刺激细胞，以确定在根据HL - A类型选择的17例患者和49例对照中8a决定簇的表达频率。发现8a与50%的HL - A8单倍型相关，并且在相同HL - A类型的患者和对照人群中频率较高。这些数据表明，CAH的易感性由一个与HL - A8处于连锁不平衡状态的基因的纯合性决定，该基因与HL - A第二位点的相关性比与主要MLC决定簇位点的相关性更密切。
