Research Unit Molecular Biology, Research Institute for the Biology of Farm Animals (FBN), Dummerstorf, Germany.
J Dairy Sci. 2010 Mar;93(3):1205-15. doi: 10.3168/jds.2009-2553.
Linkage, linkage disequilibrium, and combined linkage and linkage disequilibrium analyses were performed to map quantitative trait loci (QTL) affecting calving and conformation traits on Bos taurus autosome 18 (BTA18) in the German Holstein population. Six paternal half-sib families consisting of a total of 1,054 animals were genotyped on 28 genetic markers in the telomeric region on BTA18 spanning approximately 30 Mb. Calving traits, body type traits, and udder type traits were investigated. Using univariately estimated breeding values, maternal and direct effects on calving ease and stillbirth were analyzed separately for first- and further-parity calvings. The QTL initially identified by separate linkage and linkage disequilibrium analyses could be confirmed by a combined linkage and linkage disequilibrium analysis for udder composite index, udder depth, fore udder attachment, front teat placement, body depth, rump angle, and direct effects on calving ease and stillbirth. Concurrence of QTL peaks and a similar shape of restricted log-likelihood ratio profiles were observed between udder type traits and for body depth and calving traits, respectively. Association analyses were performed for markers flanking the most likely QTL positions by applying a mixed model including a fixed allele effect of the maternally inherited allele and a random polygenic effect. Results indicated that microsatellite marker DIK4234 (located at 53.3 Mb) is associated with maternal effects on stillbirth, direct effects on calving ease, and body depth. A comparison of effects for maternally inherited DIK4234 alleles indicated a favorable, positive correlation of maternal and direct effects on calving. Additionally, the association of maternally inherited DIK4234 marker alleles with body depth implied that conformation traits might provide the functional background of the QTL for calving traits. For udder type traits, the strong coincidence of QTL peaks and the position of the QTL in a region previously reported to harbor QTL for somatic cell score indicated that effects of QTL for udder type traits might be correlated with effects of QTL for udder health traits on BTA18. Our results suggest that loci in the middle to telomeric region on BTA18 with effect on conformation traits may also contribute to the genetic variance of calving and udder health traits. Further analyses are required to identify the causal mutations affecting conformation and calving traits and to investigate the correlation of effects for loci associated with conformation, calving, and udder health traits.
连锁、连锁不平衡以及连锁和连锁不平衡联合分析被用来定位影响德国荷斯坦牛群体第 18 号染色体(BTA18)产犊和体型性状的数量性状基因座(QTL)。6 个父系半同胞家系由总共 1054 头动物组成,在 BTA18 的端粒区域的 28 个遗传标记上进行了基因型分析,该区域跨越大约 30Mb。产犊性状、体型性状和乳房类型性状进行了研究。使用单变量估计的育种值,分别分析了第一产和以后产的产犊容易度和死产的母性和直接效应。通过联合连锁和连锁不平衡分析,最初通过单独的连锁和连锁不平衡分析确定的 QTL 可以在乳房综合指数、乳房深度、前乳房附着、前乳头位置、体深、臀部角度和产犊容易度和死产的直接效应上得到证实。在乳房类型性状和体深以及产犊性状之间,观察到 QTL 峰的一致性和受限对数似然比图谱的相似形状。应用包括母系遗传等位基因的固定等位基因效应和随机多基因效应的混合模型,对最可能的 QTL 位置附近的标记进行了关联分析。结果表明,微卫星标记 DIK4234(位于 53.3Mb)与母性对死产的影响、对产犊容易度的直接影响以及体深有关。比较母系遗传 DIK4234 等位基因的效应表明,母性和直接对产犊的影响存在有利的正相关。此外,母系遗传 DIK4234 标记等位基因与体深的关联表明,体型性状可能为产犊性状的 QTL 提供了功能背景。对于乳房类型性状,QTL 峰的强烈一致性以及 QTL 在先前报道为体细胞评分 QTL 所在区域的位置表明,乳房类型性状的 QTL 效应可能与 BTA18 上乳房健康性状的 QTL 效应相关。我们的结果表明,位于 BTA18 的中端到端粒区域的影响体型性状的基因座也可能有助于产犊和乳房健康性状的遗传方差。需要进一步分析以确定影响体型和产犊性状的因果突变,并研究与体型、产犊和乳房健康性状相关的基因座效应的相关性。