Literature DB >> 6145983

A clinically useful DNA probe closely linked to haemophilia A.

K Harper, R M Winter, M E Pembrey, D Hartley, K E Davies, E G Tuddenham.   

Abstract

Genetic linkage studies were done in families segregating for haemophilia A with an X-chromosome-specific probe, DX13, which has been localised to band Xq28. When DNA is digested with the restriction enzyme Bg1 II, this probe recognises a restriction fragment length polymorphism, for which 50% of females are heterozygous. No crossovers were seen between the haemophilia A locus and the DX13 locus (lod score = 5.4 at recombination fraction [theta] 0.0; 95% confidence limits of theta, 0-12%). This indicates that the DX13 probe is closely linked to the haemophilia A locus and is likely to prove useful in carrier detection and prenatal diagnosis.

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Year:  1984        PMID: 6145983     DOI: 10.1016/s0140-6736(84)91995-0

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  31 in total

1.  Linkage to Xq28 in a family with nonspecific X-linked mental retardation.

Authors:  A M Nordström; M Penttinen; H von Koskull
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  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

3.  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

4.  Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria.

Authors:  K Nafa; F Meriane; A Reghis; M Benabadji; F Demenais; M Guilloud-Bataille; Y Sultan; J C Kaplan; M Delpech
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

5.  The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.

Authors:  I Oberlé; D Drayna; G Camerino; R White; J L Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

6.  Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

Authors:  K E Davies; M G Mattei; J F Mattei; H Veenema; S McGlade; K Harper; N Tommerup; K B Nielsen; M Mikkelsen; P Beighton
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Fetal tissue sampling. The San Francisco experience with 190 pregnancies.

Authors:  M S Golbus; K F McGonigle; J D Goldberg; R A Filly; P W Callen; R L Anderson
Journal:  West J Med       Date:  1989-04

8.  A computer programme to calculate risk in X linked disorders using multiple marker loci.

Authors:  J F Clayton
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

9.  X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.

Authors:  D G Bichet; G N Hendy; M Lonergan; M F Arthus; S Ligier; Z Pausova; R Kluge; H Zingg; P Saenger; E Oppenheimer
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

10.  Hemophilia A or von Willebrand disease?

Authors:  J Batlle; M J Blanco-Lopez; M Domenech; M Baiget; R Rocha; M F Lopez-Fernandez
Journal:  Ann Hematol       Date:  1994-12       Impact factor: 3.673

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