Barrs V R, Giger U, Wilson B, Chan C T T, Lingard A E, Tran L, Seng A, Canfield P J, Beatty J A
Valentine Charlton Cat Centre, Faculty of Veterinary Science, The University of Sydney, New South Wales 2006, Australia. v.barrs@.usyd.edu.au
Aust Vet J. 2009 Jan-Feb;87(1):39-44. doi: 10.1111/j.1751-0813.2008.00381.x.
To determine the frequency of the mutant pyruvate kinase (PK) allele, haematological parameters and AB blood types of Abyssinian and Somali cats in Australia.
Complete blood cell and reticulocyte counts, DNA PK mutation testing and blood typing were performed in all cats.
A total of 60 cats (36 Abyssinians, 24 Somalis) were included (37 females, 23 males). For the mutant PK allele, three female Somalis were homozygous (affected, 5%), 17 cats were heterozygous (carrier, 28%) and 40 cats tested negative (normal, 67%). Pedigree analysis revealed common ancestry of affected and many carrier cats. Of affected cats, two had regenerative anaemias and all had reticulocytosis (range 64-390 x 10(9)/L; P < 0.001 compared with normal or carrier cats). The only consistent historical sign was lethargy. One affected cat was euthanased 18 months after testing, because of anaemia, neutropenia, anorexia and weight loss. The mutant allele frequency was 0.19 overall (0.29 in Somalis, 0.13 in Abyssinians). All cats had blood type A. The commercial blood typing card method incorrectly identified 12 cats as having type AB blood.
The frequency of the mutant PK allele is high in Australia. Screening for PK deficiency is indicated before mating and in individual cats of these breeds, even in the absence of anaemia and especially when there is reticulocytosis. Although all cats in the present study had blood type A, blood type B is common in these breeds worldwide. Retyping of any AB typed cats by a laboratory technique is recommended.
确定澳大利亚阿比西尼亚猫和索马里猫中丙酮酸激酶（PK）突变等位基因的频率、血液学参数及AB血型情况。
对所有猫进行全血细胞和网织红细胞计数、DNA PK突变检测及血型鉴定。
共纳入60只猫（36只阿比西尼亚猫，24只索马里猫）（37只雌性，23只雄性）。对于突变PK等位基因，3只雌性索马里猫为纯合子（患病，5%），17只猫为杂合子（携带者，28%），40只猫检测为阴性（正常，67%）。系谱分析显示患病猫和许多携带者猫有共同祖先。在患病猫中，2只患有再生性贫血，所有猫均有网织红细胞增多（范围为64 - 390×10⁹/L；与正常或携带者猫相比，P < 0.001）。唯一一致的既往体征是嗜睡。1只患病猫在检测18个月后因贫血、中性粒细胞减少、厌食和体重减轻而实施安乐死。突变等位基因总体频率为0.19（索马里猫中为0.29，阿比西尼亚猫中为0.13）。所有猫均为A型血。商业血型卡片法将12只猫错误鉴定为AB型血。
在澳大利亚，突变PK等位基因的频率较高。在这些品种的猫交配前及个体猫中，即使没有贫血，尤其是出现网织红细胞增多时，都建议进行PK缺乏症筛查。尽管本研究中的所有猫均为A型血，但在全球范围内这些品种中B型血很常见。建议通过实验室技术对任何鉴定为AB型血的猫重新进行血型鉴定。
