Giger U, Smith B F, Woods C B, Patterson D F, Stedman H
Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104-6010.
J Am Vet Med Assoc. 1992 Nov 15;201(10):1569-71.
A 3-year-old female American Cocker Spaniel with a chronic hemolytic disorder and hemolytic crises was found to have M-type phosphofructokinase deficiency. This inherited erythroenzymopathy and myopathy is commonly diagnosed in English Springer Spaniels, but the family study of this Cocker Spaniel, although supporting an autosomal recessive mode of inheritance, did not reveal any English Springer Spaniel ancestors. Molecular genetic studies did, however, identify the same mutation in this dog as we previously reported in the English Springer Spaniel breed, suggesting that this mutation originated prior to the separation of these 2 breeds.
一只患有慢性溶血性疾病和溶血危象的3岁雌性美国可卡犬被发现患有M型磷酸果糖激酶缺乏症。这种遗传性红细胞酶病和肌病通常在英国激飞猎犬中被诊断出来，但对这只可卡犬的家族研究，尽管支持常染色体隐性遗传模式，却没有发现任何英国激飞猎犬祖先。然而，分子遗传学研究确实在这只狗身上发现了与我们之前在英国激飞猎犬品种中报告的相同突变，这表明这种突变在这两个品种分离之前就已出现。
