Wilke Vicki L, Zhang Shu, Evans Richard B, Conzemius Michael G, Rothschild Max F
Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA 50011, USA.
Am J Vet Res. 2009 Aug;70(8):1013-7. doi: 10.2460/ajvr.70.8.1013.
To identify chromosomal regions associated with cranial cruciate ligament rupture (CCLR) in a population of Newfoundlands.
90 client-owned Newfoundlands.
A pedigree was constructed for dogs that did or did not have CCLR (determined on the basis of physical examination and radiographic findings). From this pedigree, affected and unaffected dogs were selected for genotyping on the basis of their predicted statistical likelihood of being homozygous CCLR-unaffected (n = 53) or homozygous CCLR-affected (37) dogs. Genotyping was performed for 532 microsatellite markers (MSATs). Comparisons of genotypes and allele frequencies were made between CCLR-affected and CCLR-unaffected dogs.
In the selected population, 495 MSATs were informative with a mean interval between markers of 5.5 centimorgans. Eighty-six MSATs were significantly associated with the CCLR trait, whereas 4 markers (located on 4 chromosomes) were significantly associated with the trait when false discovery rate (q value) was controlled at the 0.05 level. Subsequent initial validation confirmed significant trait association for 3 of the 4 MSATs.
In the population of Newfoundlands, 4 MSATs that were located on 4 chromosomes were significantly associated with the CCLR trait. Three of those markers were validated in part via genotyping additional closely located markers. The MSATs that were associated with the CCLR trait were identified in all regions (except for those on chromosome 24). Newfoundlands with CCLR could be used to study the disease process associated with anterior cruciate ligament injuries that occur in young female human athletes.
在一群纽芬兰犬中识别与颅交叉韧带断裂（CCLR）相关的染色体区域。
90只客户拥有的纽芬兰犬。
为患有或未患有CCLR的犬（根据体格检查和放射学检查结果确定）构建系谱。从该系谱中，根据预测的统计学可能性，选择纯合CCLR未受影响（n = 53）或纯合CCLR受影响（37只）的犬进行基因分型。对532个微卫星标记（MSATs）进行基因分型。比较CCLR受影响和CCLR未受影响的犬之间的基因型和等位基因频率。
在选定的群体中，495个MSATs具有信息性，标记间平均间隔为5.5厘摩。86个MSATs与CCLR性状显著相关，而当错误发现率（q值）控制在0.05水平时，4个标记（位于4条染色体上）与该性状显著相关。随后的初步验证证实了4个MSATs中的3个与性状有显著关联。
在纽芬兰犬群体中，位于4条染色体上的4个MSATs与CCLR性状显著相关。其中3个标记通过对其他紧密定位的标记进行基因分型得到了部分验证。与CCLR性状相关的MSATs在所有区域（除了24号染色体上的那些区域）都被识别出来。患有CCLR的纽芬兰犬可用于研究年轻女性人类运动员中发生的前交叉韧带损伤相关的疾病过程。
