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dc.contributor.authorLehman, S.
dc.contributor.authorGiger, U.
dc.contributor.authorFoureman, P.
dc.contributor.authorManhart, K.
dc.contributor.authorAbdulmalik, O.
dc.contributor.authorGultekin, G. Inal
dc.contributor.authorRaj, K.
dc.date.accessioned2021-03-02T22:45:02Z
dc.date.available2021-03-02T22:45:02Z
dc.date.issued2012
dc.identifier.citationGultekin G. I. , Raj K., Foureman P., Lehman S., Manhart K., Abdulmalik O., Giger U., "Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs", JOURNAL OF VETERINARY INTERNAL MEDICINE, cilt.26, sa.4, ss.935-944, 2012
dc.identifier.issn0891-6640
dc.identifier.othervv_1032021
dc.identifier.otherav_0e6bdf33-6095-4b0d-9bac-7071819998f8
dc.identifier.urihttp://hdl.handle.net/20.500.12627/15272
dc.identifier.urihttps://doi.org/10.1111/j.1939-1676.2012.00958.x
dc.description.abstractBackground Erythrocytic pyruvate kinase (PK) deficiency, first documented in Basenjis, is the most common inherited erythroenzymopathy in dogs. Objectives 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). Animals 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). Methods Exons of the PK-LR gene were sequenced from genomic DNA of young dogs (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). Conclusions and Clinical Importance 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.
dc.language.isoeng
dc.subjectBitki ve Hayvan Bilimleri
dc.subjectTarımsal Bilimler
dc.subjectVETERİNERLİK BİLİMLERİ
dc.subjectVeteriner Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTarım ve Çevre Bilimleri (AGE)
dc.titleErythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs
dc.typeMakale
dc.relation.journalJOURNAL OF VETERINARY INTERNAL MEDICINE
dc.contributor.departmentUniversity Of Pennsylvania , ,
dc.identifier.volume26
dc.identifier.issue4
dc.identifier.startpage935
dc.identifier.endpage944
dc.contributor.firstauthorID697265


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