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
Centre for Advanced Technologies in Animal Genetics and Reproduction (ReproGen), University of Sydney, Camden NSW 2570, Australia.
Genetics. 2007 Jun;176(2):763-72. doi: 10.1534/genetics.106.069369. Epub 2007 Apr 15.
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.
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。