Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency

American Journal of Veterinary Research

Volumn 60, Issue 9, 1999, Pages 1169-1172

  Skelly, Barbara J ^a   Wallace, Mary ^a   Rajpurohit, Yashoda R ^a   Wang, Ping ^a   Giger, Urs ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PRIMER DNA; PYRUVATE KINASE; RNA;

AGAR GEL ELECTROPHORESIS; ANIMAL; ANIMAL DISEASE; ARTICLE; BLOOD; CHEMISTRY; DNA SEQUENCE; DOG; DOG DISEASE; ENZYMOLOGY; ERYTHROCYTE; GENETIC SCREENING; GENETICS; HETEROZYGOTE DETECTION; HOMOZYGOTE; ISOLATION AND PURIFICATION; MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ANIMALS; DNA PRIMERS; DNA, COMPLEMENTARY; DOG DISEASES; DOGS; ELECTROPHORESIS, AGAR GEL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ERYTHROCYTES; GENETIC SCREENING; HETEROZYGOTE DETECTION; HOMOZYGOTE; MUTATION; PYRUVATE KINASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SEQUENCE ANALYSIS, DNA;

EID: 0033191091     PISSN: 00029645     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Imamura K, Tanaka T. Multimolecular forms of pyruvate kinase from rat and other mammalian tissues. J Biochem (Tokyo) 1972;71:1043-1051.
2. Noguchi T, Inoue H, Tanaka T. The M1-and M2-type isozymes of rat pyruvate kinase are produced form the same gene by alternative RNA splicing. J Biol Chan 1986;261:13807-13812.
3. Noguchi T, Yamada K, Inoue H, et al. The L-and R-type isozymes of rat pyruvate kinase are produced from a single gene by use of different promoters. J Biol Chem 1987;262:14366-14371.
4. Tanaka KR, Paglia DE. Pyruvate kinase and other enzymopathies of the erythrocyte. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill Book Co, 1995;3488-3493.
5. Searcy GP, Miller DR, Tasker JB. Congenital anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Can J Comp Med 1971;35:67-70.
6. Prasse KW, Crouser D, Beutler E, et al. Pyruvate kinase deficiency anemia with terminal myelofibrosis and osteosclerosis in a Beagle. J Am Vet Med Assoc 1975;166:1170-1175.
7. Giger U, Wang P. Inherited erythrocyte pyruvate kinase deficiency in a beagle dog. Vet Clin Pathol 1992;20:83-86.
8. Schaer M, Harvey JW, Calderwood-Mays M, et al. Pyruvate kinase deficiency causing haemolytic anemia with secondary hemochromatosis in a Cairn terrier dog. J Am Anim Hosp Assoc 1992;28:233-239.
9. Chapman B, Giger U. Inherited erythrocyte pyruvate kinase deficiency in the West Highland White Terrier. J Small Anim Pract 1990;31:610-616.
10. Giger U. Hereditary erythrocyte disorders. In: Bonagura J, ed. Kirk's current veterinary therapy XIII: small animal practice. Philadelphia: WB Saunders Co, 1999;in press.
11. Randolph JF, Center SA, Kallfelz FA. Familial nonspherocytic hemolytic anemia in Poodles. Am J Vet Res 1986;47:687-695.
12. Whitney K, Goodman S, Bailey E, et al. The molecular basis of canine pyruvate kinase deficiency. Exp Hematol 1994;22:866-874.
13. Whitney KM, Lothrop CD. Genetic test for pyruvate kinase deficiency of Basenjis. J Am Vet Med Assoc 1995;207:918-921.
14. Imamura K, Tanaka T, Nishina T, et al. Studies on pyruvate kinase (PK) deficiency II. Electrophoretic, kinetic and immunological studies on pyruvate kinase of erythrocytes and other tissues. J Biochem (Tokyo) 1973;74:1165-1175.
15. Giger U, Noble NA. Determination of erythrocyte pyruvate kinase deficiency in Basenjis with chronic hemolytic anemia. J Am Vet Med Assoc 1991;198:1755-1761.
16. Beutler E. Red cell metabolism: a manual of biochemical methods. 3rd ed. Orlando, Fla: Grune & Stratton, 1984.
17. Chomczynski P. A reagent for the single-step simultaneous isolation of RNA, DNA and proteins from cell and tissue samples. Biotechniques 1993;15:532-534.
18. Kawasaki ES. Sample preparation from blood, cells and other fluids. In: Innis MA, Gelfand DH, Sninsky JJ, et al, eds. PCR protocols: a guide to methods and applications. San Diego: Academic Press Inc, 1990;146-152.
19. Muirhead H, Clayden DA, Barford D, et al. The structure of cat muscle pyruvate kinase. EMBO J 1986;5:475-481.
20. Van Solinge W, Kraaijenhagen R, Rijksen G, et al. Molecular modeling of human red blood cell pyruvate kinase: structural implications of a novel G1091 to A mutation causing severe nonspherocytic hemolytic anemia. Blood 1997;90:4987-4995.
21. Kanno H, Ballas S, Miwa S, et al. Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. Blood 1994;83: 2311-2316.
22. Krawczak M, Cooper DN. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local sequence environment. Hum Genet 1991;86:425-441.
23. Cooper DN, Krawczak M. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet 1991;87:409-415.
24. Richards RI, Sutherland GR. Simple repeat DNA is not replicated simply. Nat Genet 1994;6:114-116.
25. Schlotterer C, Tautz D. Slippage synthesis of simple sequence DNA. Nucleic Acids Res 1992;20:211-215.
26. Baronciani L, Beutler E. Analysis of pyruvate kinase deficiency mutations that produce nonspherocytic hemolytic anemia. Proc Natl Acad Sci U S A 1993;90:4324-4327.