Davidson Autumn P, Pollard Rachel E, Bannasch Danika L, Marks Stanley L, Hornof William J, Famula Thomas R
Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.
Am J Vet Res. 2004 Mar;65(3):344-9. doi: 10.2460/ajvr.2004.65.344.
To characterize a genetic component to cricopharyngeal dysfunction (CD) in Golden Retrievers.
117 dogs.
The CD phenotype was determined by videofluoroscopy, and dogs were classified as affected if the upper esophageal sphincter (UES) did not open, if there were morphologic abnormalities of the UES, or if opening of the UES was delayed for > or = 6 videofluoroscopic frames (0.2 seconds) after closure of the epiglottis. All survey radiographic and videofluoroscopic studies were reviewed by the same radiologist.
Of the 117 dogs (47 males and 70 females) with a CD phenotype determined via videofluoroscopy, 21 dogs (18.0%) had abnormalities of the UES (affected). Of these 21 dogs, 9 were males (19.1% of all males) and 12 were females (17.1% of all females). The heritability of CD in a threshold model was estimated as 0.61, which established that CD could be passed from parent to offspring. Results of complex segregation analysis suggested that a single recessive allele of large effect contributed to the expression of this disease in Golden Retrievers.
The determination that CD is inherited in Golden Retrievers is an important step in providing information for veterinarians attending dogs with this disorder. Breeders also require this information to make informed breeding decisions.
确定金毛寻回犬环咽肌功能障碍（CD）的遗传因素。
117只犬。
通过电视荧光吞咽造影术确定CD表型，若食管上括约肌（UES）未开放、UES存在形态学异常或UES开放在会厌关闭后延迟≥6个电视荧光吞咽造影帧（0.2秒），则将犬分类为患病。所有X线摄影和电视荧光吞咽造影研究均由同一位放射科医生进行评估。
在通过电视荧光吞咽造影术确定具有CD表型的117只犬（47只雄性和70只雌性）中，21只犬（18.0%）存在UES异常（患病）。在这21只犬中，9只为雄性（占所有雄性的19.1%），12只为雌性（占所有雌性的17.1%）。在阈值模型中，CD的遗传力估计为0.61，这表明CD可从亲代遗传给子代。复杂分离分析结果表明，一个具有较大效应的隐性等位基因导致了金毛寻回犬这种疾病的发生。
确定CD在金毛寻回犬中具有遗传性，这为诊治患有该疾病的犬的兽医提供信息迈出了重要一步。育种者也需要这些信息来做出明智的育种决策。
