Literature DB >> 1697559

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

P Jedlicka1, S Greer, D S Millar, C B Grundy, E Jenkins, M Mitchell, R S Mibashan, V V Kakkar, D N Cooper.   

Abstract

Two novel restriction fragment length polymorphisms (RFLPs) around the DXS115 (767) locus, detectable with the restriction enzymes MspI, are described. Since DXS115 is closely linked to the factor VIII gene (F8C), the MspI RFLP was employed in haemophilia A carrier detection. The utility of these RFLPs lies in the increased applicability and accuracy of diagnoses carried out in cases where available intragenic markers are uninformative.

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Year:  1990        PMID: 1697559     DOI: 10.1007/bf00206753

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  24 in total

1.  Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.

Authors:  O Attree; D Vidaud; M Vidaud; S Amselem; J M Lavergne; M Goossens
Journal:  Genomics       Date:  1989-04       Impact factor: 5.736

2.  Linkage studies in a large fragile X family.

Authors:  M Patterson; M Bell; W Kress; K E Davies; U Froster-Iskenius
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

3.  Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

Authors:  B Arveiler; I Oberlé; A Vincent; M H Hofker; P L Pearson; J L Mandel
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

4.  MspI polymorphism in the 3' flanking region of the human factor VIII gene.

Authors:  H Youssoufian; D G Phillips; H H Kazazian; S E Antonarakis
Journal:  Nucleic Acids Res       Date:  1987-08-11       Impact factor: 16.971

5.  Strategies for detecting and characterizing restriction fragment length polymorphisms (RFLP's).

Authors:  M H Skolnick; R White
Journal:  Cytogenet Cell Genet       Date:  1982

6.  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

7.  Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis.

Authors:  M Pecorara; L Casarino; P G Mori; M Morfini; G Mancuso; A M Scrivano; E Boeri; A C Molinari; R De Biasi; N Ciavarella
Journal:  Blood       Date:  1987-08       Impact factor: 22.113

8.  A clinically useful DNA probe closely linked to haemophilia A.

Authors:  K Harper; R M Winter; M E Pembrey; D Hartley; K E Davies; E G Tuddenham
Journal:  Lancet       Date:  1984-07-07       Impact factor: 79.321

9.  Detection of hemophilia A carriers using intragenic factor VIII:C DNA polymorphisms.

Authors:  R L Janco; J A Phillips; P J Orlando; M J Woodard; K L Wion; R M Lawn
Journal:  Blood       Date:  1987-05       Impact factor: 22.113

10.  Molecular pathology of haemophilia B.

Authors:  P M Green; D R Bentley; R S Mibashan; I M Nilsson; F Giannelli
Journal:  EMBO J       Date:  1989-04       Impact factor: 11.598

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