Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs.
Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs.
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DOI：
10.1111/j.1939-1676.2012.00958.x
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发表时间：
2012-07
影响因子：
2.6
通讯作者：
Giger U
中科院分区：
文献类型：
--
作者：
Gultekin GI;Raj K;Foureman P;Lehman S;Manhart K;Abdulmalik O;Giger U
红细胞丙酮酸激酶（PK）缺乏症，首先记录在Basenjis，是最常见的遗传性红细胞酶病的狗。报告3种新的品种特异性PK-LR基因突变，并对小型和选定的比格犬和西部高地白色梗（WHWT）组中的PK突变进行回顾性调查。拉布拉多寻回犬（2个兄弟姐妹，5个无关），哈巴狗（2个兄弟姐妹，1个无关），比格犬（39个贫血，29个其他），WHWT（22个贫血，226个非贫血），凯恩梗（n = 1）。从患有持续性高度再生性溶血性贫血的幼犬（<2岁）的基因组DNA中测序PK-LR基因的外显子。在患有骨质疏松症、高血清铁蛋白浓度和严重的肝脏继发性血色病的贫血拉布拉多猎犬同胞中发现了导致提前终止密码子的无义突变（c.799C>T）。贫血的哈巴狗和比格犬发现了2种不同的错义突变（分别为c.848T>C，c.994G>A），导致蛋白质结构和酶功能发生不可耐受的氨基酸变化。开发了品种特异性突变试验。在248例WHWT的偏倚组中，对于先前描述的突变（突变等位基因频率0.26），分别有9%和35%为纯合子（受影响）和杂合子。一个PK缺陷凯恩梗有相同的插入突变的影响WHWT。在选定的68只比格犬中，35%为PK缺陷型，3%为携带者（0.37）。红细胞PK缺乏症是由不同犬种的不同突变引起的，并且由于慢性溶血和尚未解释的骨质疏松症而引起慢性重度溶血性贫血、含铁血黄素沉着症和继发性血色素沉着症。新开发的品种特异性突变检测简化了PK缺陷的诊断。
Erythrocytic pyruvate kinase (PK) deficiency, first documented in Basenjis, is the most common inherited erythroenzymopathy in dogs. To report 3 new breed-specific PK-LR gene mutations and a retrospective survey of PK mutations in a small and selected group of Beagles and West Highland White Terriers (WHWT). Labrador Retrievers (2 siblings, 5 unrelated), Pugs (2 siblings, 1 unrelated), Beagles (39 anemic, 29 other), WHWTs (22 anemic, 226 nonanemic), Cairn Terrier (n = 1). Exons of the PK-LR gene were sequenced from genomic DNA of young dogs (<2 years) with persistent highly regenerative hemolytic anemia. A nonsense mutation (c.799C>T) resulting in a premature stop codon was identified in anemic Labrador Retriever siblings that had osteosclerosis, high serum ferritin concentrations, and severe hepatic secondary hemochromatosis. Anemic Pug and Beagle revealed 2 different missense mutations (c.848T>C, c.994G>A, respectively) resulting in intolerable amino acid changes to protein structure and enzyme function. Breed-specific mutation tests were developed. Among the biased group of 248 WHWTs, 9% and 35% were homozygous (affected) and heterozygous, respectively, for the previously described mutation (mutant allele frequency 0.26). A PK-deficient Cairn Terrier had the same insertion mutation as the affected WHWTs. Of the selected group of 68 Beagles, 35% were PK-deficient and 3% were carriers (0.37). Erythrocytic PK deficiency is caused by different mutations in different dog breeds and causes chronic severe hemolytic anemia, hemosiderosis, and secondary hemochromatosis because of chronic hemolysis and, an as yet unexplained osteosclerosis. The newly developed breed-specific mutation assays simplify the diagnosis of PK deficiency.
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DOI：
10.1016/0950-3528(90)90048-l
发表时间：
1990-03-01
期刊：
BAILLIERES CLINICAL GASTROENTEROLOGY
影响因子：
--
作者：
BRIND, AM;BASSENDINE, MF
通讯作者：
BASSENDINE, MF
影响因子：
2.4
作者：
Kramer, JW;Venta, PJ;Yuzbasiyan-Gurkan, V
通讯作者：
Yuzbasiyan-Gurkan, V
影响因子：
11.4
作者：
MUIRHEAD, H;CLAYDEN, DA;SCHMITT, W
通讯作者：
SCHMITT, W
影响因子：
10.4
作者：
Callan, M. B.;Aljamali, M. N.;High, K. A.
通讯作者：
High, K. A.
DOI：
10.1111/j.1939-1676.1994.tb03206.x
发表时间：
1994-03-01
影响因子：
2.6
作者：
HOUSE, JK;SMITH, BP;PINO, MV
通讯作者：
PINO, MV