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重新评估牛种基因型方法:基于模拟运算的熟练度。

Re-Evaluation of Genotyping Methodologies in Cattle: The Proficiency of Imputation.

机构信息

Institute of Animal Science, Agricultural Research Organization (ARO), HaMaccabim Road, P.O. Box 15159, Rishon LeTsiyon 7528809, Israel.

Beef Cattle Section, Newe-Ya'ar Research Center, Agricultural Research Organization, P.O. Box 1021, Ramat Yishay 30095, Israel.

出版信息

Genes (Basel). 2023 Feb 22;14(3):547. doi: 10.3390/genes14030547.

Abstract

In dairy cattle, identifying polymorphisms that contribute to complex economical traits such as residual feed intake (RFI) is challenging and demands accurate genotyping. In this study, we compared imputed genotypes ( = 192 cows) to those obtained using the TaqMan and high-resolution melting (HRM) methods ( = 114 cows), for mutations in the gene that had been suggested to have a large effect on RFI. Combining the whole genome sequence ( = 19 bulls) and the cows' BovineHD BeadChip allowed imputing genotypes for these mutations that were verified by Sanger sequencing, whereas, an error rate of 11.6% and 10.7% were encountered for HRM and TaqMan, respectively. We show that this error rate seriously affected the linkage-disequilibrium analysis that supported this gene candidacy over other BTA14 gene candidates. Thus, imputation produced superior genotypes and should also be regarded as a method of choice to validate the reliability of the genotypes obtained by other methodologies that are prone to genotyping errors due to technical conditions. These results support the view that RFI is a complex trait and that searching for the causative sequence variation underlying cattle RFI should await the development of statistical methods suitable to handle additive and epistatic interactions.

摘要

在奶牛中,鉴定与剩余采食量(RFI)等复杂经济性状相关的多态性是具有挑战性的,需要进行准确的基因分型。在这项研究中,我们比较了已提出对 RFI 有较大影响的 基因突变的估计基因型(=192 头奶牛)与 TaqMan 和高分辨率熔解(HRM)方法获得的基因型(=114 头奶牛)。结合全基因组序列(=19 头公牛)和奶牛的 BovineHD BeadChip,我们可以对这些突变进行 Sanger 测序验证的基因型估计,而 HRM 和 TaqMan 的错误率分别为 11.6%和 10.7%。我们表明,这种错误率严重影响了连锁不平衡分析,支持该基因候选者而非其他 BTA14 基因候选者。因此,估计产生了更好的基因型,也应该被视为一种选择方法,以验证其他易受基因分型错误影响的技术条件的方法获得的基因型的可靠性。这些结果支持 RFI 是一种复杂性状的观点,并且应该等待适合处理加性和上位性相互作用的统计方法的发展,以寻找牛 RFI 背后的因果序列变异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62cb/10048120/1217defdab34/genes-14-00547-g001.jpg

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