Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan.
Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan.
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DOI：
10.1292/jvms.14-0600
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发表时间：
2015-06
期刊：
影响因子：
--
通讯作者：
Yamato O
中科院分区：
文献类型：
--
作者：
Kushida K;Giger U;Tsutsui T;Inaba M;Konno Y;Hayashi K;Noguchi K;Yabuki A;Mizukami K;Kohyama M;Endo Y;Yamato O
红细胞丙酮酸激酶（PK）缺乏症是由PKLR基因突变引起的遗传性糖酵解性红细胞酶病。猫PKLR基因的致病突变最初在美国的阿比西尼亚和索马里猫中被鉴定。在本研究中，开发了基于TaqMan探针的真实的-时间PCR基因分型测定，并评价了该突变的快速基因分型和大规模筛查。此外，基因分型调查进行了人口的四个流行的纯种猫在日本，以确定目前的突变等位基因频率。该检测清楚地显示了猫PK缺乏症的所有基因型，表明其适用于大规模调查以及诊断。这项调查表明，阿比西尼亚和索马里猫的突变等位基因频率很高，足以保证采取措施控制和预防这种疾病。孟加拉猫和美短毛猫的突变等位基因频率相对较低，但仍应进行检测，以防止疾病的传播。此外，在日本以及全球范围内，在纯种猫贫血的鉴别诊断中应始终考虑PK缺乏。
Erythrocyte pyruvate kinase (PK) deficiency is an inherited glycolytic erythroenzymopathy caused by mutations of the PKLR gene. A causative mutation of the feline PKLR gene was originally identified in Abyssinian and Somali cats in the U.S.A. In the present study, a TaqMan probe-based real-time PCR genotyping assay was developed and evaluated for rapid genotyping and large-scale screening for this mutation. Furthermore, a genotyping survey was carried out in a population of four popular purebred cats in Japan to determine the current mutant allele frequency. The assay clearly displayed all genotypes of feline PK deficiency, indicating its suitability for large-scale survey as well as diagnosis. The survey demonstrated that the mutant allele frequency in Abyssinian and Somali cats was high enough to warrant measures to control and prevent the disease. The mutant allele frequency was relatively low in Bengal and American Shorthair cats; however, the testing should still be carried out to prevent the spread of the disease. In addition, PK deficiency should always be considered in the differential diagnosis of anemia in purebred cats in Japan as well as worldwide.
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影响因子：
2.6
作者：
Gultekin GI;Raj K;Foureman P;Lehman S;Manhart K;Abdulmalik O;Giger U
通讯作者：
Giger U
影响因子：
2.6
作者：
Grahn RA;Grahn JC;Penedo MC;Helps CR;Lyons LA
通讯作者：
Lyons LA
影响因子：
1.7
作者：
Kohn, Barbara;Fumi, Christine
通讯作者：
Fumi, Christine
影响因子：
1.5
作者：
Mizukami, Keijiro;Chang, Hye-Sook;Yamato, Osamu
通讯作者：
Yamato, Osamu
影响因子：
1.1
作者：
Barrs, V. R.;Giger, U.;Beatty, J. A.
通讯作者：
Beatty, J. A.