Literature DB >> 3012474

A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

K L Wion, E G Tuddenham, R M Lawn.   

Abstract

A restriction fragment length polymorphism (RFLP) has been found in the gene for clotting factor VIII. Defects in this gene are the cause of hemophilia A. The DNA polymorphism affects an XbaI site in intron 22 of the gene. Two alleles occur in a frequency of 59 and 41 percent of the X chromosomes tested. Furthermore, about 25 percent of females who are homozygous for the previously reported BclI RFLP in the factor VIII gene are heterozygous for the XbaI polymorphism. This new RFLP thus represents a significant addition to available probes for the DNA-based prenatal diagnosis and carrier detection of this disease.

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Year:  1986        PMID： 3012474      PMCID： PMC311463          DOI： 10.1093/nar/14.11.4535

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  12 in total

1.  Efficeint transcription of RNA into DNA by avian sarcoma virus polymerase.

Authors:  J M Taylor; R Illmensee; J Summers
Journal:  Biochim Biophys Acta       Date:  1976-09-06

2.  Carrier testing strategy in haemophilia A.

Authors:  R L Janco; J A Phillips; P Orlando; K E Davies; J Old; S E Antonarakis
Journal:  Lancet       Date:  1986-01-18       Impact factor: 79.321

3.  Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe.

Authors:  J Gitschier; R M Lawn; F Rotblat; E Goldman; E G Tuddenham
Journal:  Lancet       Date:  1985-05-11       Impact factor: 79.321

4.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

5.  Characterization of the human factor VIII gene.

Authors:  J Gitschier; W I Wood; T M Goralka; K L Wion; E Y Chen; D H Eaton; G A Vehar; D J Capon; R M Lawn
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

6.  Molecular cloning of a cDNA encoding human antihaemophilic factor.

Authors:  J J Toole; J L Knopf; J M Wozney; L A Sultzman; J L Buecker; D D Pittman; R J Kaufman; E Brown; C Shoemaker; E C Orr
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

7.  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

8.  Expression of active human factor VIII from recombinant DNA clones.

Authors:  W I Wood; D J Capon; C C Simonsen; D L Eaton; J Gitschier; B Keyt; P H Seeburg; D H Smith; P Hollingshead; K L Wion; E Delwart; E G Tuddenham; G A Vehar; R M Lawn
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

9.  First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13.

Authors:  R M Winter; K Harper; E Goldman; R S Mibashan; R C Warren; C H Rodeck; R J Penketh; R H Ward; R M Hardisty; M E Pembrey
Journal:  Br Med J (Clin Res Ed)       Date:  1985-09-21

10.  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
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  36 in total

1.  MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population.

Authors:  H Inaba; M Fujimaki; H H Kazazian; S E Antonarakis
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

2.  Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus.

Authors:  P Jedlicka; S Greer; D S Millar; C B Grundy; E Jenkins; M Mitchell; R S Mibashan; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

3.  Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis.

Authors:  B A van Oost; P M van Zandvoort; W Tünte; H G Brunner; A J Hoogeboom; P D Maaswinkel-Mooy; J Bakkeren; B Hamel; H H Ropers
Journal:  Hum Genet       Date:  1991-02       Impact factor: 4.132

4.  Further characterization of the new marker at DXS115 with regard to carrier detection in hemophilia A.

Authors:  S Kling; R Ljung; E Sjörin; I M Nilsson
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

5.  Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

Authors:  M Higuchi; S E Antonarakis; L Kasch; J Oldenburg; E Economou-Petersen; K Olek; M Arai; H Inaba; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

6.  A new marker at DXS 115 useful for carrier detection in hemophilia A.

Authors:  M Wehnert; W Schröder; F H Herrmann
Journal:  Hum Genet       Date:  1990-11       Impact factor: 4.132

7.  Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.

Authors:  S Kogan; J Gitschier
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205

8.  Introduction to DNA-Based Genetic Diagnostics.

Authors:  R M Glickman; M A Phillips; B W Glickman
Journal:  Can Fam Physician       Date:  1988-04       Impact factor: 3.275

9.  A linkage study of a large pedigree with X linked centronuclear myopathy.

Authors:  J Starr; M Lamont; L Iselius; J Harvey; J Heckmatt
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

Review 10.  Haemophilia: strategies for carrier detection and prenatal diagnosis.

Authors:  I R Peake; D P Lillicrap; V Boulyjenkov; E Briet; V Chan; E K Ginter; E M Kraus; R Ljung; P M Mannucci; K Nicolaides
Journal:  Bull World Health Organ       Date:  1993       Impact factor: 9.408
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