Toward understanding MHC disease associations: Partial resequencing of 46 distinct HLA haplotypes
Toward understanding MHC disease associations: Partial resequencing of 46 distinct HLA haplotypes
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DOI：
10.1016/j.ygeno.2005.11.020
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发表时间：
2006-05-01
期刊：
影响因子：
4.4
通讯作者：
Geraghty, Daniel E.
中科院分区：
文献类型：
--
作者：
Smith, Wade P.;Vu, Quyen;Geraghty, Daniel E.
我们进行了一个重测序项目，检查552 kb的序列，从46个单独的HLA单倍型代表的HLA等位基因类型的多样性，产生近27 Mb的完全定相的基因组序列。确定了从HLA-F的端粒延伸到HLA-DP的着丝粒的单倍型区块，包括总共5186个MHC SNPs。为了研究常见HLA单倍型的进化起源的基本问题，并估计MHC的罕见变异，我们同样检查了另外两组样本。在19个独立的HLA-A1，B8，DR 3染色体，最常见的HLA单倍型在北方欧洲高加索人，变异被发现在11个SNP位点的3600 kb区域从HLA-A DR。部分重测序的282个人在基因密集的III类区域确定了显着的变异性超出了可以被检测到的连锁常见的SNP。(c)2005年爱思唯尔公司All rights reserved.
We carried out a resequencing project that examined 552 kb of sequence from each of 46 individual HLA haplotypes representing a diversity of H LA allele types, generating nearly 27 Mb of fully phased genomic sequence. Haplotype blocks were defined extending from telomeric of HLA-F to centromeric of HLA-DP including in total 5186 MHC SNPs. To investigate basic questions about the evolutionary origin of common HLA haplotypes, and to obtain an estimate of rare variation in the MHC, we similarly examined two additional sets of samples. In 19 independent HLA-A1, B8, DR3 chromosomes, the most common HLA haplotype in Northern European Caucasians, variation was found at 11 SNP positions in the 3600-kb region from HLA-A to DR. Partial resequencing of 282 individuals in the gene-dense class III region identified significant variability beyond what could have been detected by linkage to common SNPs. (c) 2005 Elsevier Inc. All rights reserved.