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突尼斯本土牛的连锁不平衡与过去的有效种群大小

Linkage disequilibrium and past effective population size in native Tunisian cattle.

作者信息

Jemaa Slim Ben, Thamri Nejia, Mnara Sofiane, Rebours Emmanuelle, Rocha Dominique, Boussaha Mekki

机构信息

National Institute of Agronomic Research of Tunisia, Laboratoire des Productions Animales et Fourragères, Ariana, Tunisia.

Livestock and Pasture Office, Tunis Belvedere, Tunisia.

出版信息

Genet Mol Biol. 2019 Jan-Mar;42(1):52-61. doi: 10.1590/1678-4685-GMB-2017-0342. Epub 2019 Feb 18.

Abstract

To carry out effective genome-wide association studies, information about linkage disequilibrium (LD) is essential. Here, we used medium-density SNP chips to provide estimates of LD in native Tunisian cattle. The two measures of LD that were used, mean r2 and D', decreased from 0.26 to 0.05 and from 0.73 to 0.40, respectively, when the distance between markers increased from less than 20 Kb to 200 Kb. The decay in LD over physical distance occurred at a faster rate than that reported for European and other indigenous breeds, and reached background levels at less than 500 Kb distance. This is consistent with the absence of strong selective pressure within the Tunisian population and suggests that, in order to be effective, any potential genome-wide association mapping studies will need to use chips with higher marker density. An analysis of effective population size (Ne) based on LD data showed a decline in past Ne, with a sudden drop starting about eight generations ago. This finding, combined with the high levels of recent inbreeding revealed by runs of homozygosity (ROH) analysis, indicate that this population is endangered and may be in urgent need of a conservation plan that includes a well-designed genetic management program.

摘要

为了开展有效的全基因组关联研究,连锁不平衡(LD)信息至关重要。在此,我们使用中密度SNP芯片来估计突尼斯本地牛的LD情况。当标记间距离从小于20 Kb增加到200 Kb时,所使用的两种LD度量指标,即平均r2和D',分别从0.26降至0.05,从0.73降至0.40。LD随物理距离的衰减速度比欧洲和其他本土品种报道的更快,并且在距离小于500 Kb时达到背景水平。这与突尼斯种群内缺乏强烈选择压力相一致,并表明为了有效开展研究,任何潜在的全基因组关联图谱研究都需要使用标记密度更高的芯片。基于LD数据对有效种群大小(Ne)的分析显示,过去的Ne有所下降,大约从八代前开始突然下降。这一发现,再加上纯合子连续片段(ROH)分析揭示的近期高度近亲繁殖情况,表明该种群濒临灭绝,可能迫切需要一个包括精心设计的遗传管理计划在内的保护方案。

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