Literature DB >> 2835904

Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.

H Youssoufian1, C Wong, S Aronis, H Platokoukis, H H Kazazian, S E Antonarakis.   

Abstract

To define the molecular basis of a TaqI site alteration in the factor VIII gene of a patient with moderately severe hemophilia A, we used a combination of genomic amplification followed by direct sequencing and oligonucleotide hybridization, to demonstrate an A-to-G substitution in exon 7 (codon 291) of this gene. This mutation generates a Gly in place of Glu at amino acid 272 of the mature factor VIII protein. The mutation arose de novo in a germ cell of the patient's mother.

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 2835904      PMCID： PMC1715196     

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


  15 in total

1.  Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.

Authors:  H Youssoufian; H H Kazazian; D G Phillips; S Aronis; G Tsiftis; V A Brown; S E Antonarakis
Journal:  Nature       Date:  1986 Nov 27-Dec 3       Impact factor: 49.962

2.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Authors:  R K Saiki; S Scharf; F Faloona; K B Mullis; G T Horn; H A Erlich; N Arnheim
Journal:  Science       Date:  1985-12-20       Impact factor: 47.728

3.  Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.

Authors:  J Gitschier; W I Wood; M A Shuman; R M Lawn
Journal:  Science       Date:  1986-06-13       Impact factor: 47.728

4.  Molecular basis of base substitution hotspots in Escherichia coli.

Authors:  C Coulondre; J H Miller; P J Farabaugh; W Gilbert
Journal:  Nature       Date:  1978-08-24       Impact factor: 49.962

5.  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

6.  DNA methylation and the frequency of CpG in animal DNA.

Authors:  A P Bird
Journal:  Nucleic Acids Res       Date:  1980-04-11       Impact factor: 16.971

7.  Immunoradiometric measurement of the factor VIII procoagulant antigen.

Authors:  J Lazarchick; L W Hoyer
Journal:  J Clin Invest       Date:  1978-11       Impact factor: 14.808

8.  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

9.  Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.

Authors:  S E Antonarakis; P G Waber; S D Kittur; A S Patel; H H Kazazian; M A Mellis; R B Counts; G Stamatoyannopoulos; E J Bowie; D N Fass
Journal:  N Engl J Med       Date:  1985-10-03       Impact factor: 91.245

10.  The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit beta-globin DNA.

Authors:  R B Wallace; M J Johnson; T Hirose; T Miyake; E H Kawashima; K Itakura
Journal:  Nucleic Acids Res       Date:  1981-02-25       Impact factor: 16.971
View more
  10 in total

1.  Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

Authors:  A H Bröcker-Vriends; F R Rosendaal; J C van Houwelingen; E Bakker; G J van Ommen; J J van de Kamp; E Briët
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

2.  Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.

Authors:  D W Yandell; T P Dryja
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

3.  Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.

Authors:  R P Ketterling; E Vielhaber; C D Bottema; D J Schaid; M P Cohen; C L Sexauer; S S Sommer
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

4.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

Authors:  E G Tuddenham; D N Cooper; J Gitschier; M Higuchi; L W Hoyer; A Yoshioka; I R Peake; R Schwaab; K Olek; H H Kazazian
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

5.  Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Authors:  M Higuchi; H H Kazazian; L Kasch; T C Warren; M J McGinniss; J A Phillips; C Kasper; R Janco; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-15       Impact factor: 11.205

6.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971

7.  Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.

Authors:  H Inaba; M Fujimaki; H H Kazazian; S E Antonarakis
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

8.  Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

Authors:  M Arai; H Inaba; M Higuchi; S E Antonarakis; H H Kazazian; M Fujimaki; L W Hoyer
Journal:  Proc Natl Acad Sci U S A       Date:  1989-06       Impact factor: 11.205

9.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-11-11       Impact factor: 16.971

10.  In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.

Authors:  George Priya Doss C
Journal:  J Biomed Sci       Date:  2012-03-16       Impact factor: 8.410
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.