Finch T, Lawlor E, Borton M, Barnes C A, McNamara S, O'Riordan J, McCann S R, Darke C
Blood Transfusion Service Board, Dublin, Ireland.
Exp Clin Immunogenet. 1997;14(4):250-63.
The distribution of HLA phenotypes, genes and haplotypes in the normal population is of considerable importance in, for example, disease susceptibility studies, platelet transfusion support and transplantation. HLA population genetics studies have been carried out on numerous population samples, however, no major studies have been performed on Irish Caucasoids. We have analysed the HLA-A, B and DR phenotypes of 1,910 healthy unrelated Irish blood donors recruited onto the Irish Bone Marrow Donor Panel. HLA typing was performed by a combination of serology, the polymerase chain reaction with sequence-specific primers and reverse hybridisation. We calculated Hardy-Weinberg fit, phenotype and gene frequencies and two- and three-locus haplotype frequencies, linkage disequilibrium (LD) values and their significance levels and relative LD values. Compared to many other European populations, the Irish show a high frequency of HLA-A1, B7, B8 and DR2 and a reduced frequency of HLA-A9, A30, B15 and DR4. Two- and three-locus haplotypes and the combinations of alleles in positive LD were all typical of northern European populations. However, the Irish have especially high frequencies of the common HLA-A1/B8, A2/B44, A3/B7, HLA-B8/DR3, B7/DR2, B44/DR4 and B44/DR7 haplotypes, while the frequency of other relatively common haplotypes, e.g. HLA-A2/B15, is reduced. These frequencies are of particular value for estimating the likelihood of finding bone marrow donors in patients' extended families and unrelated donor panels.
例如,在疾病易感性研究、血小板输血支持和移植等方面,正常人群中HLA表型、基因和单倍型的分布具有相当重要的意义。针对众多人群样本开展了HLA群体遗传学研究,然而,尚未对爱尔兰白种人进行过重大研究。我们分析了招募到爱尔兰骨髓捐献者小组中的1910名健康、无血缘关系的爱尔兰献血者的HLA - A、B和DR表型。HLA分型采用血清学、序列特异性引物聚合酶链反应和反向杂交相结合的方法进行。我们计算了哈迪 - 温伯格拟合度、表型和基因频率以及两位点和三位点单倍型频率、连锁不平衡(LD)值及其显著性水平和相对LD值。与许多其他欧洲人群相比,爱尔兰人显示出HLA - A1、B7、B8和DR2的高频率,以及HLA - A9、A30、B15和DR4的低频率。两位点和三位点单倍型以及处于正LD的等位基因组合均为北欧人群的典型特征。然而,爱尔兰人具有特别高频率的常见HLA - A1/B8、A2/B44、A3/B7、HLA - B8/DR3、B7/DR2、B44/DR4和B44/DR7单倍型,而其他相对常见的单倍型,如HLA - A2/B15的频率则降低。这些频率对于估计在患者的大家庭和无关供体小组中找到骨髓供体的可能性具有特殊价值。