Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats
Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats
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DOI：
10.1111/j.1751-0813.2008.00381.x
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发表时间：
2009-01-01
影响因子：
1.1
通讯作者：
Beatty, J. A.
中科院分区：
文献类型：
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作者：
Barrs, V. R.;Giger, U.;Beatty, J. A.
目的了解澳大利亚阿比西尼亚猫和索马里猫丙酮酸激酶(PK)突变型等位基因频率、血液学参数和AB型血型，并进行全血细胞和网织红细胞计数、DNA PK突变检测和血型鉴定。对于突变的PK等位基因，3只索马里雌性猫是纯合子(受影响，5%)，17只猫是杂合子(携带者，28%)，40只猫检测为阴性(正常，67%)。系谱分析显示，受影响的猫和许多携带者都有共同的祖先。在患病猫中，2只患有再生性贫血，所有猫都有网织红细胞增多症(范围-390x10(9)/L；与正常猫或携带者相比P<；0.001)。唯一始终如一的历史迹象是昏昏欲睡。一只受影响的猫在测试18个月后被安乐死，原因是贫血、中性粒细胞减少、厌食症和体重减轻。突变等位基因频率为0.19(索马里人为0.29，阿比西尼亚人为0.13)。所有猫都是A型血，商业血型卡法错误地将12只猫识别为AB型血。结论突变的PK等位基因在澳大利亚的频率很高。即使在没有贫血的情况下，特别是在网织红细胞增多的情况下，也要在交配前和这些品种的猫个体中进行PK缺乏症的筛查。尽管本研究中的所有猫都是A型血，但B型血在世界各地的这些品种中都很常见。建议通过实验室技术对任何AB型猫进行重新分型。
Objective To determine the frequency of the mutant pyruvate kinase (PK) allele, haematological parameters and AB blood types of Abyssinian and Somali cats in Australia.Design Complete blood cell and reticulocyte counts, DNA PK mutation testing and blood typing were performed in all cats.Results 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.Conclusions 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.