Summers K M, Tam K S, Halliday J W, Powell L W
Department of Medicine, University of Queensland, Brisbane, Australia.
Am J Hum Genet. 1989 Jul;45(1):41-8.
The frequencies of different HLA-A and -B alleles in 77 Australian patients with hemochromatosis have been compared with frequencies of HLA alleles not associated with hemochromatosis in 63 of their heterozygous relatives and with published population frequencies. As for all other populations reported, an association of HLA-A3 and HLA-B7 with the disease was found. A weak association with HLA-B12 was also detected. No other significant positive or negative associations with HLA alleles were detected. In addition, HLA-A2 and -B12 were in significant linkage disequilibrium in patients but not in controls, which may indicate a new mutation or recent recombination between HLA-A and hemochromatosis either in our patient group or in the founding population. HLA-A1 and -B8 and HLA-A29 and -B12 were in linkage disequilibrium in controls but not in patients, suggesting that this population is not segregating a hemochromatosis allele on either of these haplotypes. Genetic linkage analysis using the program LIPED showed strong linkage in 23/24 families, most of which had additional HLA alleles (other than A3 and B7) associated with hemochromatosis. This provides evidence for a single hemochromatosis locus, possibly with more than one allele.
对77名患有血色素沉着症的澳大利亚患者的不同HLA - A和 - B等位基因频率，与其63名杂合亲属中与血色素沉着症无关的HLA等位基因频率以及已发表的人群频率进行了比较。与其他所有报道的人群一样，发现HLA - A3和HLA - B7与该疾病相关。还检测到与HLA - B12存在弱关联。未检测到与其他HLA等位基因有其他显著的正相关或负相关。此外，HLA - A2和 - B12在患者中存在显著的连锁不平衡，而在对照组中则不存在，这可能表明在我们的患者群体或创始人群体中，HLA - A与血色素沉着症之间发生了新的突变或近期重组。HLA - A1和 - B8以及HLA - A29和 - B12在对照组中存在连锁不平衡，而在患者中则不存在，这表明该人群在这些单倍型中的任何一个上都没有分离出血色素沉着症等位基因。使用LIPED程序进行的基因连锁分析显示，在23/24个家族中存在强连锁，其中大多数家族还有与血色素沉着症相关的其他HLA等位基因（除了A3和B7）。这为单一的血色素沉着症基因座提供了证据，可能有不止一个等位基因。
