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荷兰献血者的HLA基因及单倍型频率

HLA gene and haplotype frequencies in Dutch blood donors.

作者信息

Schipper R F, Schreuder G M, D'Amaro J, Oudshoorn M

机构信息

Department of Immunohematology & Blood Bank, Leiden University Hospital, The Netherlands.

出版信息

Tissue Antigens. 1996 Nov;48(5):562-74. doi: 10.1111/j.1399-0039.1996.tb02670.x.

Abstract

We analyzed the HLA-A, -B, -C, -DR and -DQ phenotypes of 2,440 healthy, unrelated, Dutch Caucasoid blood donors and of 20,814 Dutch blood donors who were registered as volunteer bone marrow or platelet donors. Phenotype and gene frequencies, Hardy-Weinberg equilibrium fit and homozygosity were calculated as well as 2- and 3-locus haplotype frequencies, deltas, relative deltas and significance levels of the deltas. The population appears to be in Hardy-Weinberg equilibrium. Many haplotypes are in strong positive linkage disequilibrium. A phylogenetic tree, based on the HLA-A, -B and -DR gene frequencies of blood donors in different Dutch regions, reflects the limited but manifest heterogeneity of the Dutch population. Additionally we introduce a stepwise test for Hardy-Weinberg equilibrium and discuss the applicability of this test and of the single test for Hardy-Weinberg equilibrium for tissue typing quality control and for selection of split antigens prior to gene and haplotype frequency analyses.

摘要

我们分析了2440名健康、无亲缘关系的荷兰白种人献血者以及20814名登记为志愿骨髓或血小板捐献者的荷兰献血者的HLA - A、- B、- C、- DR和 - DQ表型。计算了表型和基因频率、哈迪 - 温伯格平衡拟合度和纯合度,以及两位点和三位点单倍型频率、增量、相对增量和增量的显著性水平。该人群似乎处于哈迪 - 温伯格平衡状态。许多单倍型存在强正连锁不平衡。基于荷兰不同地区献血者的HLA - A、- B和 - DR基因频率构建的系统发育树,反映了荷兰人群有限但明显的异质性。此外,我们引入了一种用于哈迪 - 温伯格平衡的逐步检验方法,并讨论了该检验方法以及哈迪 - 温伯格平衡的单一检验方法在组织分型质量控制和基因及单倍型频率分析之前选择裂解抗原方面的适用性。

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