title: Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3-p11.22 region.
abstract: Linkage analysis was performed in 19 families segregating for the Wiskott-Aldrich syndrome (WAS) and in 1 family with X-linked thrombocytopenia using nine polymorphic DNA markers spanning the interval DXS7-DXS14. The results confirm close linkage of WAS to the DXS7, TIMP, OATL1, DXS255, DXS146, and DXS14 loci and reveal three additional marker loci, DXS426, SYP, and TFE3, to be closely linked to WAS. The linkage data are also consistent with the localization of X-linked thrombocytopenia to the same chromosomal region as WAS and support localization of the WAS gene between the TIMP and DXS146 loci. However, the data were insufficient for positioning these disease genes with respect to the four marker loci that map within this latter interval. Analysis of recombination events between the marker loci place the TFE3 gene distal to DXS255 and favor the marker loci order Xpter-DXS7-(DXS426, TIMP)-(OATL1, SYP, TFE3)-DXS255-DXS146-DXS14.
authors.affiliation: Department of Medicine, Immunology and Molecular and Medical Genetics, University of Toronto, Ontario, Canada.
authors.forename: S M
authors.initials: SM
authors.lastname: Cremin
authors.forename: W L
authors.initials: WL
authors.lastname: Greer
authors.forename: R
authors.initials: R
authors.lastname: Bodok-Nutzati
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: M
authors.initials: M
authors.lastname: Peacocke
authors.forename: K A
authors.initials: KA
authors.lastname: Siminovitch
mesh_terms: D001483:Base Sequence; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D016708:Synaptophysin / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D014960:X Chromosome
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D017931:DNA Primers; D004268:DNA-Binding Proteins; D016708:Synaptophysin; C069203:TFE3 protein, human; D014157:Transcription Factors