Literature DB >> 1346773

The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.

W L Greer1, M Peacocke, K A Siminovitch.   

Abstract

The Wiskott-Aldrich syndrome (WAS) has previously been mapped to the proximal short arm of the X chromosome between the DXS14 and DXS7 loci. In this study, further segregation analysis has been performed using a newly identified WAS family as well as an additional marker probe, HOATL1. The results indicate close linkage between the WAS and OATL1 loci (Z = 6.08 at theta = 0.00) and localize the TIMP, OATL1, DXS255, and WAS loci distal to DXS146 and the OATL1 and WAS loci proximal to TIMP. These linkage data narrow the boundaries within which the WAS locus maps to the chromosomal region bracketed by TIMP and DXS146 and support the loci order Xpter-DXS7-TIMP-(OATL1, WAS, DXS255)-DXS146.

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Year:  1992        PMID： 1346773     DOI： 10.1007/bf00215681

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


  20 in total

1.  Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

Authors:  R A ALDRICH; A G STEINBERG; D C CAMPBELL
Journal:  Pediatrics       Date:  1954-02       Impact factor: 7.124

2.  The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22.

Authors:  P S Henthorn; C C Stewart; T Kadesch; J M Puck
Journal:  Genomics       Date:  1991-10       Impact factor: 5.736

3.  Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3.

Authors:  S P Kwan; T Lehner; T Hagemann; B Lu; M Blaese; H Ochs; R Wedgwood; J Ott; I W Craig; F S Rosen
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

4.  Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome.

Authors:  W L Greer; A K Somani; P C Kwong; M Peacocke; L A Rubin; K A Siminovitch
Journal:  Genomics       Date:  1990-03       Impact factor: 5.736

5.  Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.

Authors:  W L Greer; M M Mahtani; P C Kwong; L A Rubin; M Peacocke; H F Willard; K A Siminovitch
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132

6.  Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.

Authors:  M Peacocke; K A Siminovitch
Journal:  Proc Natl Acad Sci U S A       Date:  1987-05       Impact factor: 11.205

7.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

8.  Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity.

Authors:  M D Cooper; H P Chae; J T Lowman; W Krivit; R A Good
Journal:  Am J Med       Date:  1968-04       Impact factor: 4.965

9.  A primary genetic map of the pericentromeric region of the human X chromosome.

Authors:  M M Mahtani; H F Willard
Journal:  Genomics       Date:  1988-05       Impact factor: 5.736

10.  Aberrant O-linked oligosaccharide biosynthesis in lymphocytes and platelets from patients with the Wiskott-Aldrich syndrome.

Authors:  E A Higgins; K A Siminovitch; D L Zhuang; I Brockhausen; J W Dennis
Journal:  J Biol Chem       Date:  1991-04-05       Impact factor: 5.157
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  6 in total

Review 1.  The Wiskott-Aldrich syndrome.

Authors:  H D Ochs
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 8.667

Review 2.  The Wiskott-Aldrich syndrome.

Authors:  H D Ochs
Journal:  Springer Semin Immunopathol       Date:  1998

3.  Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

Authors:  S P Kwan; T L Hagemann; B E Radtke; R M Blaese; F S Rosen
Journal:  Proc Natl Acad Sci U S A       Date:  1995-05-09       Impact factor: 11.205

4.  Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3-p11.22 region.

Authors:  S M Cremin; W L Greer; R Bodok-Nutzati; M Schwartz; M Peacocke; K A Siminovitch
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

5.  Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.

Authors:  R Kolluri; K F Tolias; C L Carpenter; F S Rosen; T Kirchhausen
Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-28       Impact factor: 11.205

Review 6.  Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.

Authors:  P E Jardine; P D Cotter; S A Johnson; E J Fitzsimons; L Tyfield; P W Lunt; D F Bishop
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318
  6 in total

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