Zhu Lan, Zhang Zhiwu, Friedenberg Steven, Jung Seung-Woo, Phavaphutanon Janjira, Vernier-Singer Margaret, Corey Elizabeth, Mateescu Raluca, Dykes Nathan, Sandler Jody, Acland Gregory, Lust George, Todhunter Rory
Department of Clinical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA.
Vet J. 2009 Aug;181(2):97-110. doi: 10.1016/j.tvjl.2009.02.008. Epub 2009 Mar 17.
Hip dysplasia is a common inherited trait of dogs that results in secondary osteoarthritis. In this article the methods used to uncover the mutations contributing to this condition are reviewed, beginning with hip phenotyping. Coarse, genome-wide, microsatellite-based screens of pedigrees of greyhounds and dysplastic Labrador retrievers were used to identify linked quantitative trait loci (QTL). Fine-mapping across two chromosomes (CFA11 and 29) was employed using single nucleotide polymorphism (SNP) genotyping. Power analyses and preferential selection of dogs for ongoing SNP-based genotyping is described with the aim of refining the QTL intervals to 1-2 megabases on these and several additional chromosomes prior to candidate gene screening. The review considers how a mutation or a genetic marker such as a SNP or haplotype of SNPs might be combined with pedigree and phenotype information to create a 'breeding value' that could improve the accuracy of predicting a dog's hip conformation.
髋关节发育不良是犬类常见的遗传特征,会导致继发性骨关节炎。本文回顾了用于揭示导致这种病症的突变的方法,从髋关节表型分析开始。对灵缇犬和发育不良的拉布拉多寻回犬的家系进行了粗略的、全基因组的、基于微卫星的筛查,以识别连锁的数量性状位点(QTL)。使用单核苷酸多态性(SNP)基因分型对两条染色体(CFA11和29)进行精细定位。描述了功效分析以及为正在进行的基于SNP的基因分型对犬只进行优先选择,目的是在候选基因筛查之前将这些以及其他几条染色体上的QTL区间缩小到1-2兆碱基。该综述考虑了一个突变或一个遗传标记(如SNP或SNP单倍型)如何与家系和表型信息相结合,以创建一个“育种值”,从而提高预测犬只髋关节形态的准确性。