A deletion mutation causes hemophilia B in Lhasa Apso dogs

Blood

Volumn 88, Issue 9, 1996, Pages 3451-3455

  Mauser, A E ^b   Whitlark, J ^b   Whitney, K M ^b   Lothrop Jr , C D ^a  

^a AUBURN UNIVERSITY   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 9; DNA; MESSENGER RNA;

ANIMAL MODEL; ARTICLE; BLOOD CLOTTING TIME; CONTROLLED STUDY; DELETION MUTANT; DNA SEQUENCE; DOG; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE THERAPY; HEMOPHILIA B; MALE; NONHUMAN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; STOP CODON;

EID: 0029858228     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v88.9.3451.bloodjournal8893451     Document Type: Article

References (29)

1. Gerrard AJ, Hudson DL, Brownlee GG, Watt FM: Towards gene therapy for haemophilia B using primary human keratinocytes. Nat Genet 3:180, 1993
2. Lozier JN, Brinkhous KM: Gene therapy and the hemophilias. JAMA 271:47, 1994
3. Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K: Nucleotide sequence of the gene for human factor IX (Antihemophilic factor B). Biochemistry 24:3736, 1985
4. Roberts H: Molecular biology of hemophilia B. Thromb Haemost 70:1, 1993
5. Giannelli F, Green P, Sommer S, Poon M, Schwaab R, Reitsma P, Goossens M, Yoshioka A, Brownlee G: Haemophilia B: Database of point mutations and short additions and deletions. Nucleic Acids Res 24:103, 1996
6. Bottema C, Bottema M, Ketterling R, Yoon H, Janco R, Phillips J, Sommer S: Why does the human factor IX gene have a G + C content of 40%? Am J Hum Genet 49:839, 1991
7. Green P, Montandon A, Bentley D, Ljung R, Nilsson I, Giannelli F: The incidence and distribution of CpG -> TpG transitions in the coagulation and factor IX gene. A fresh look at CpG mutational hotspots. Nucleic Acids Res 18:3227, 1990
8. Evans JP, Watzke HH, Ware JL, Stafford DW, High KA: Molecular cloning of a cDNA encoding canine factor IX. Blood 74:207, 1989
9. Evans J, Brinkhous K, Brayer G, Reisner H, High K: Canine hemophilia B resulting from a point mutation with unusual consequences. Proc Natl Acad Sci USA 86:10095, 1989
10. Jacobs R, Lumsden J, Vernau W: Canine and feline reference values, in Bonagura J, Kirk R (eds): Kirk's Current Veterinary Therapy XII Small Animal Practice, Philadelphia, PA, Saunders, 1995, p 1395
11. Herrmann BG, Frischauf AM: Isolation of genomic DNA. Methods Enzymol 152:180, 1987
12. Chirgwin JM, Przybyla AE, MacDonald RJ, Rutter WJ: Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294, 1979
13. Puissant C, Houdebine L: An improvement of the single-step method of RNA isolation by acid guanidinium thiocyanate-phenolchloroform extraction. BioTechniques 8:148, 1990
14. Axelrod J, Read M, Brinkhous K, Verma I: Phenotypic correction of factor IX deficiency in skin fibroblasts of hemophilic dogs. Proc Natl Acad Sci USA 87:5173, 1990
15. Carter BZ, Malter JS: Biology of disease: Regulation of mRNA stability and its relevance to disease. Lab Invest 65:610, 1991
16. Whitney K, Goodman S, Bailey E, Lothrop CD Jr: The molecular basis of canine pyruvate kinase deficiency. Exp Hematol 22:866, 1994
17. Daar I, Maquat L: Premature translation termination mediates triosephosphate isomerase mRNA degradation. Mol Cell Biol 8:802, 1988
18. Akli S, Chelly J, Lacorte J, Poenaru L, Kahn A: Seven novel Tay-Sachs muations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. Genomics 11:124, 1991
19. Myerowitz R, Costigan F: The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the α-chain of β-hexosaminidase. J Biochem 263:18587, 1988
20. Baserga S, Benz EJ: β-Globin nonsense mutation: Deficient accumulation of mRNA occurs despite normal cytoplasmic stability. Proc Natl Acad Sci USA 89:2935, 1992
21. Ludwig M, Grimm T, Brackmann H, Olek K: Parental origin of factor IX gene mutations, and their distribution in the gene. Am J Hum Genet 50:164, 1992
22. Sommer SS: Recent human germ-line mutation: Inferences from patients with hemophilia B. Trends Genet 11:141, 1995
23. Sommer SS: Assessing the underlying pattern of human germline mutations: Lessons from the factor IX gene. FASEB 6:2767, 1992
24. Ketterling R, Vielhaber E, Sommer S: The rates of G:C -> T:A and G:C -→ C:G transversions at CpG dinucleotides in the human factor IX gene. Am J Hum Genet 54:831, 1994
25. Krawczak M, Cooper D: Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425, 1991
26. Law H, Ong J, Yoon C, Cheng H, Tan C, Ng I: Rapid antenatal diagnosis of β-thalassemia in Chinese caused by the common 4-bp deletion in codons 41/42 using high-resolution agarose gel electrophoresis and heteroduplex detection. Biochem Med Meta Biol 53:149, 1994
27. Olds R, Lane D, Beresford C, Abilgaard U, Hughes P, Thein S: A recurrent deletion in the antithrombin gene, AT106-108 (-6 bp), indentified by DNA heteroduplex detection. Genomics 16:298, 1993
28. Ganguly A, Rock M, Prockop D: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325, 1993
29. Chen S, Schoof J, Weinmann A, Thompson A: Heteroduplex screening for molecular defects in factor IX genes from hemophilia B families. Br J Haematol 98:409, 1995