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本文引用的文献

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A gene-centric approach to genome-wide association studies.一种以基因为中心的全基因组关联研究方法。
Nat Rev Genet. 2006 Nov;7(11):885-91. doi: 10.1038/nrg1962.
2
Linkage disequilibrium on chromosome 6 in Australian Holstein-Friesian cattle.澳大利亚荷斯坦-弗里生牛6号染色体上的连锁不平衡
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A first-generation metric linkage disequilibrium map of bovine chromosome 6.牛6号染色体的第一代连锁不平衡图谱。
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Technical note: Whole-genome amplification of DNA extracted from cattle semen samples.技术说明:从牛精液样本中提取的DNA的全基因组扩增
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Discovery, linkage disequilibrium and association analyses of polymorphisms of the immune complement inhibitor, decay-accelerating factor gene (DAF/CD55) in type 1 diabetes.1型糖尿病中免疫补体抑制剂衰变加速因子基因(DAF/CD55)多态性的发现、连锁不平衡及关联分析
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Genome sequence, comparative analysis and haplotype structure of the domestic dog.家犬的基因组序列、比较分析及单倍型结构
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基于对荷斯坦-弗里生牛进行基因分型的包含15,036个单核苷酸多态性的面板构建的牛单倍型块图谱的初步组装。

A primary assembly of a bovine haplotype block map based on a 15,036-single-nucleotide polymorphism panel genotyped in holstein-friesian cattle.

作者信息

Khatkar Mehar S, Zenger Kyall R, Hobbs Matthew, Hawken Rachel J, Cavanagh Julie A L, Barris Wes, McClintock Alexander E, McClintock Sara, Thomson Peter C, Tier Bruce, Nicholas Frank W, Raadsma Herman W

机构信息

Centre for Advanced Technologies in Animal Genetics and Reproduction (ReproGen), University of Sydney, Camden NSW 2570, Australia.

出版信息

Genetics. 2007 Jun;176(2):763-72. doi: 10.1534/genetics.106.069369. Epub 2007 Apr 15.

DOI:10.1534/genetics.106.069369
PMID:17435229
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1894606/
Abstract

Analysis of data on 1000 Holstein-Friesian bulls genotyped for 15,036 single-nucleotide polymorphisms (SNPs) has enabled genomewide identification of haplotype blocks and tag SNPs. A final subset of 9195 SNPs in Hardy-Weinberg equilibrium and mapped on autosomes on the bovine sequence assembly (release Btau 3.1) was used in this study. The average intermarker spacing was 251.8 kb. The average minor allele frequency (MAF) was 0.29 (0.05-0.5). Following recent precedents in human HapMap studies, a haplotype block was defined where 95% of combinations of SNPs within a region are in very high linkage disequilibrium. A total of 727 haplotype blocks consisting of > or =3 SNPs were identified. The average block length was 69.7 +/- 7.7 kb, which is approximately 5-10 times larger than in humans. These blocks comprised a total of 2964 SNPs and covered 50,638 kb of the sequence map, which constitutes 2.18% of the length of all autosomes. A set of tag SNPs, which will be useful for further fine-mapping studies, has been identified. Overall, the results suggest that as many as 75,000-100,000 tag SNPs would be needed to track all important haplotype blocks in the bovine genome. This would require approximately 250,000 SNPs in the discovery phase.

摘要

对1000头荷斯坦-弗里生公牛进行15036个单核苷酸多态性(SNP)基因分型的数据进行分析,已实现全基因组范围内单倍型块和标签SNP的识别。本研究使用了9195个处于哈迪-温伯格平衡且定位在牛序列组装(版本Btau 3.1)常染色体上的SNP最终子集。标记间平均间距为251.8 kb。平均次要等位基因频率(MAF)为0.29(0.05 - 0.5)。遵循人类HapMap研究的最新先例,定义了一个单倍型块,其中一个区域内SNP组合的95%处于非常高的连锁不平衡状态。总共鉴定出727个由≥3个SNP组成的单倍型块。平均块长度为69.7 ± 7.7 kb,约为人类的5 - 10倍。这些块总共包含2964个SNP,覆盖序列图谱的50638 kb,占所有常染色体长度的2.18%。已鉴定出一组对进一步精细定位研究有用的标签SNP。总体而言,结果表明在牛基因组中追踪所有重要单倍型块需要多达75000 - 100000个标签SNP。这在发现阶段大约需要250000个SNP。