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来自国家骨髓捐赠项目的90个罕见等位基因的单倍型关联。

Haplotype associations of 90 rare alleles from the National Marrow Donor Program.

作者信息

Kempenich J H, Setterholm M, Maiers M

机构信息

National Marrow Donor Program, Minneapolis, MN 55413, USA.

出版信息

Tissue Antigens. 2006 Apr;67(4):284-9. doi: 10.1111/j.1399-0039.2006.00570.x.

DOI:10.1111/j.1399-0039.2006.00570.x
PMID:16634864
Abstract

The National Marrow Donor Program maintains an HLA database of over 4.1 million US adult volunteers, 43,000 cord blood units, and 111,000 patients from which we identified 1,999,424 samples having allele-level HLA-A, HLA-B, or HLA-DRB1 results. We analyzed 811 rare alleles reported at a frequency of less than 1 in 50,000 in this study pool and found strong predicted haplotype associations for 90 of them. The data set includes the number of times the allele was seen, the predicted haplotypes, and the racial or ethnic groups in which it was identified. This information can be helpful in designing search strategies for patients with rare alleles requiring hematopoietic stem cell therapy.

摘要

国家骨髓捐赠项目维护着一个HLA数据库,其中包含超过410万美国成年志愿者、43000份脐带血样本以及111000名患者的数据。我们从这些数据中识别出1999424个具有等位基因水平HLA - A、HLA - B或HLA - DRB1结果的样本。我们分析了本研究样本库中报告频率低于五万分之一的811个罕见等位基因,发现其中90个存在强预测单倍型关联。数据集包括等位基因出现的次数、预测的单倍型以及识别出该等位基因的种族或族裔群体。这些信息有助于为需要造血干细胞治疗的罕见等位基因患者设计搜索策略。

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Using high-resolution human leukocyte antigen typing of 11,423 randomized unrelated individuals to determine allelic varieties, deduce probable human leukocyte antigen haplotypes, and observe linkage disequilibria between human leukocyte antigen-B and-C and human leukocyte antigen-DRB1 and-DQB1 alleles in the Taiwanese Chinese population.利用对11423名随机选取的无亲缘关系个体进行高分辨率人类白细胞抗原分型,以确定等位基因变体、推断可能的人类白细胞抗原单倍型,并观察台湾汉族人群中人类白细胞抗原B和C以及人类白细胞抗原DRB1和DQB1等位基因之间的连锁不平衡。
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