Literature DB >> 2565080

An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767).

M Patterson1, J Gitschier, J Bloomfield, M Bell, H Dorkins, U Froster-Iskenius, S Sommer, J Sobell, D Schaid, S Thibodeau.   

Abstract

The genomic sequences recognized by the anonymous probe 767 (DXS115) are localized to two sites within Xq28. One site lies within intron 22 of the factor VIII gene (FBC). Physical mapping suggests that the second site lies within 1.2 megabases of the F8C gene. The RFLPs detected by 767 are located within the second site. Genetic data suggest that F8C and DXS115 are tightly linked (theta max = .04; Zmax = 8.30). Recombination events in meioses informative for DXS52 (St14), DXS115, and F8C suggest that DXS115 and F8C lie distal to DXS52.

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Year:  1989        PMID： 2565080      PMCID： PMC1715651     

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


  21 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  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

3.  Report of the committee on the genetic constitution of the X and Y chromosomes.

Authors:  K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal:  Cytogenet Cell Genet       Date:  1987

4.  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

5.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

6.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

7.  Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.

Authors:  M H Hofker; M C Wapenaar; N Goor; E Bakker; G J van Ommen; P L Pearson
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

8.  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

9.  Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene.

Authors:  J Gitschier; D Drayna; E G Tuddenham; R L White; R M Lawn
Journal:  Nature       Date:  1985 Apr 25-May 1       Impact factor: 49.962

10.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025
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  6 in total

1.  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

2.  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

3.  Methylation status of genes flanking the fragile site in males with the fragile-X syndrome: a test of the imprinting hypothesis.

Authors:  M M Khalifa; A L Reiss; B R Migeon
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

4.  A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.

Authors:  S Kenwrick; J Gitschier
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

5.  A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus.

Authors:  D Freije; D Schlessinger
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

6.  Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.

Authors:  B J Trask; H Massa; S Kenwrick; J Gitschier
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025
  6 in total

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