Riehl J, Okura M, Mignot E, Nishino S
Sleep Disorders Center, School of Medicine, Stanford University, Palo Alto, CA 94304, USA.
Am J Vet Res. 2000 Feb;61(2):115-20. doi: 10.2460/ajvr.2000.61.115.
To determine the mode of inheritance of von Willebrand's disease (vWD) and perform linkage analysis between vWD and coat color or narcolepsy in a colony of Doberman Pinschers.
159 Doberman Pinschers.
von Willebrand factor antigen (vWF:Ag) concentration was measured by use of ELISA, and results were used to classify dogs as having low (< 20%), intermediate (20 to 65%), or high (> 65%) vWF:Ag concentration, compared with results of analysis of standard pooled plasma. Buccal bleeding time was measured, and mode of inheritance of vWD was assessed by pedigree analysis.
von Willebrand's disease was transmitted as a single autosomal gene defect. Results suggested that 27.04% of dogs were homozygous for vWD, 62.26% were heterozygous, and 10.69% did not have the defect. Most homozygous and some heterozygous dogs had prolonged bleeding times. Dogs with diluted coat colors (blue and fawn) were significantly overrepresented in the homozygous group, compared with black and red dogs, but a significant link between vWD and coat color was not detected.
von Willebrand's disease is transmitted as an autosomal dominant trait with variable penetrance; most dogs in this colony (89.3%) were carriers of vWD. Homozygosity for vWD is not likely to be lethal. Some heterozygous dogs have prolonged bleeding times. An association between diluted coat colors and vWD may exist.
确定杜宾犬群体中血管性血友病（vWD）的遗传模式，并进行vWD与毛色或发作性睡病之间的连锁分析。
159只杜宾犬。
采用酶联免疫吸附测定法（ELISA）测量血管性血友病因子抗原（vWF:Ag）浓度，并将结果与标准混合血浆分析结果进行比较，从而将犬分为vWF:Ag浓度低（<20%）、中等（20%至65%）或高（>65%）的犬。测量口腔出血时间，并通过系谱分析评估vWD的遗传模式。
血管性血友病以单一常染色体基因缺陷形式遗传。结果表明，27.04%的犬为vWD纯合子，62.26%为杂合子，10.69%无该缺陷。大多数纯合子犬和一些杂合子犬的出血时间延长。与黑色和红色犬相比，毛色稀释（蓝色和淡褐色）的犬在纯合子组中的比例显著过高，但未检测到vWD与毛色之间的显著关联。
血管性血友病以具有可变外显率的常染色体显性性状形式遗传；该群体中的大多数犬（89.3%）为vWD携带者。vWD纯合子不太可能致死。一些杂合子犬的出血时间延长。毛色稀释与vWD之间可能存在关联。
