Literature DB >> 2929599

Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.

S H Chen1, C R Scott, J Schoof, E W Lovrien, K Kurachi.   

Abstract

Male siblings with severe hemophilia b were studied for the molecular defect responsible for their disorder. To define the precise DNA alteration, a 362-bp fragment in the first part of exon VIII of the factor IX gene was amplified and sequenced. A single-base-pair substitution of C----T at the nucleotide sequence 30875 was found which resulted in a nonsense mutation (TGA) and terminated the protein synthesis of factor IX at amino acid residue 252. The single-base change occurred as a classic CG dinucleotide alteration to TG (or CA), a common mechanism for point mutations in mammals.

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Year:  1989        PMID： 2929599      PMCID： PMC1715568     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  10 in total

1.  Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

Authors:  S Yoshitake; B G Schach; D C Foster; E W Davie; K Kurachi
Journal:  Biochemistry       Date:  1985-07-02       Impact factor: 3.162

2.  An intragenic deletion of the factor IX gene in a family with hemophilia B.

Authors:  S H Chen; S Yoshitake; P F Chance; G L Bray; A R Thompson; C R Scott; K Kurachi
Journal:  J Clin Invest       Date:  1985-12       Impact factor: 14.808

3.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

Review 4.  Structure, function, and molecular defects of factor IX.

Authors:  A R Thompson
Journal:  Blood       Date:  1986-03       Impact factor: 22.113

5.  Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia.

Authors:  J C Murray; C M Demopulos; R M Lawn; A G Motulsky
Journal:  Proc Natl Acad Sci U S A       Date:  1983-10       Impact factor: 11.205

6.  Detection and sequence of mutations in the factor VIII gene of haemophiliacs.

Authors:  J Gitschier; W I Wood; E G Tuddenham; M A Shuman; T M Goralka; E Y Chen; R M Lawn
Journal:  Nature       Date:  1985 May 30-Jun 5       Impact factor: 49.962

7.  The molecular pathology of haemophilia B. Fourth Wellcome Trust lecture.

Authors:  G G Brownlee
Journal:  Biochem Soc Trans       Date:  1987-02       Impact factor: 5.407

8.  Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.

Authors:  M C Poon; D H Chui; M Patterson; D M Starozik; L S Dimnik; D I Hoar
Journal:  J Clin Invest       Date:  1987-04       Impact factor: 14.808

9.  Restriction sites containing CpG show a higher frequency of polymorphism in human DNA.

Authors:  D Barker; M Schafer; R White
Journal:  Cell       Date:  1984-01       Impact factor: 41.582

10.  Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

Authors:  H Youssoufian; S E Antonarakis; W Bell; A M Griffin; H H Kazazian
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025
  10 in total
  12 in total

1.  Haemophilia B: database of point mutations and short additions and deletions--second edition.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

2.  Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1992-05-11       Impact factor: 16.971

3.  Haemophilia B: database of point mutations and short additions and deletions.

Authors:  F Giannelli; P M Green; K A High; J N Lozier; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1990-07-25       Impact factor: 16.971

4.  Diagnosis of haemophilia B using the polymerase chain reaction.

Authors:  J Reiss; U Neufeldt; K Wieland; B Zoll
Journal:  Blut       Date:  1990-01

5.  Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.

Authors:  D D Koeberl; C D Bottema; G Sarkar; R P Ketterling; S H Chen; S S Sommer
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

6.  Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Authors:  A Hamosh; B C Trapnell; P L Zeitlin; C Montrose-Rafizadeh; B J Rosenstein; R G Crystal; G R Cutting
Journal:  J Clin Invest       Date:  1991-12       Impact factor: 14.808

7.  Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993.

Authors:  F Giannelli; P M Green; K A High; S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1993-07-01       Impact factor: 16.971

8.  CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.

Authors:  S H Chen; M Zhang; E W Lovrien; C R Scott; A R Thompson
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

9.  Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

Authors:  S H Chen; A R Thompson; M Zhang; C R Scott
Journal:  J Clin Invest       Date:  1989-07       Impact factor: 14.808

10.  Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

Authors:  F Giannelli; P M Green; S S Sommer; D P Lillicrap; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971
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