Mokry Fabiana Barichello, Buzanskas Marcos Eli, de Alvarenga Mudadu Maurício, do Amaral Grossi Daniela, Higa Roberto Hiroshi, Ventura Ricardo Vieira, de Lima Andressa Oliveira, Sargolzaei Mehdi, Conceição Meirelles Sarah Laguna, Schenkel Flávio Schramm, da Silva Marcos Vinicius Gualberto Barbosa, Méo Niciura Simone Cristina, de Alencar Maurício Mello, Munari Danísio, de Almeida Regitano Luciana Correia
BMC Genomics. 2014;15 Suppl 7(Suppl 7):S6. doi: 10.1186/1471-2164-15-S7-S6. Epub 2014 Oct 27.
The development of linkage disequilibrium (LD) maps and the characterization of haplotype block structure at the population level are useful parameters for guiding genome wide association (GWA) studies, and for understanding the nature of non-linear association between phenotypes and genes. The elucidation of haplotype block structure can reduce the information of several single nucleotide polymorphisms (SNP) into the information of a haplotype block, reducing the number of SNPs in a coherent way for consideration in GWA and genomic selection studies.
The maximum average LD, measured by r2 varied between 0.33 to 0.40 at a distance of < 2.5 kb, and the minimum average values of r2 varied between 0.05 to 0.07 at distances ranging from 400 to 500 kb, clearly showing that the average r2 reduced with the increase in SNP pair distances. The persistence of LD phase showed higher values at shorter genomic distances, decreasing with the increase in physical distance, varying from 0.96 at a distance of < 2.5 kb to 0.66 at a distance from 400 to 500 kb. A total of 78% of all SNPs were clustered into haplotype blocks, covering 1,57 Mb of the total autosomal genome size.
This study presented the first high density linkage disequilibrium map and haplotype block structure for a composite beef cattle population, and indicates that the high density SNP panel over 700 k can be used for genomic selection implementation and GWA studies for Canchim beef cattle.
连锁不平衡(LD)图谱的构建以及群体水平上单倍型块结构的表征是指导全基因组关联(GWA)研究以及理解表型与基因之间非线性关联本质的有用参数。单倍型块结构的阐明可以将多个单核苷酸多态性(SNP)的信息整合为单倍型块的信息,以一种连贯的方式减少GWA和基因组选择研究中要考虑的SNP数量。
以r2衡量的最大平均LD在小于2.5 kb的距离处为0.33至0.40,而r2的最小平均值在400至500 kb的距离处为0.05至0.07,清楚地表明平均r2随着SNP对距离的增加而降低。LD相位的持续性在较短的基因组距离处显示出较高的值,并随着物理距离的增加而降低,从小于2.5 kb距离处的0.96变化到400至500 kb距离处的0.66。所有SNP中共有78%聚集成单倍型块,覆盖了常染色体基因组总大小的1.57 Mb。
本研究展示了首个复合肉牛群体的高密度连锁不平衡图谱和单倍型块结构,并表明超过700 k的高密度SNP面板可用于坎辛肉牛的基因组选择实施和GWA研究。