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© 1993 Oxford University Press

OTHER

Fine mapping of the human SCIDX1 locus at Xq12–13.1

Sophie Markiewicz, James P. DiSanto, Jamel Chelly1, NIicolas Fairweather1, Bernard Le Marec2, Claude Griscelli, Manuel B. Graeber3, Ulrich Muller3, Alain Fischer, Anthony P. Monaco1 and Geneviève de Saint Basile*,

INSERM U132, Ho{ring}pital Necker-Enfants Malades 149, rue de Sèvres, 75743 Paris Cedex 15, France 1Imperial Cancer Research Fund, University of Oxford, John Radcliffe Hospital Oxford OX3 9DU, UK 2CHRU de Rennes, Ho{ring}pital de Pontchaillou Rennes, France 3Institut fur Humangenetik, Justus-Liebig-Universitat Giessen Schlangenzahl 14, W-6300 Giessen, Germany

* To whom correspondence should be addressed

Received March 3, 1993; Revised March 23, 1993; Accepted March 23, 1993

Previous linkage analysis of families with X-linked severe combined immunodeficiency (SCIDX1) mapped this locus to a large region encompassing about 10 to 20 cM at Xq12–21. We have analyzed in SCIDX1 families the segregation of 7 highly polymorphic microsatellites repeats localized to this region, including a new polymorphic microsatellite at the DXS135 locus described in this study, to refine the mapping of this disease locus. The observations of genetic recombinants within the previously defined SCIDX1-region allow us to establish new flanking markers at the DXS135 and DXS227 loci, which significantly reduce the region harboring the SCIDX1 locus to a distance estimated between 3 to 5 cM. The existence of multiple, highly polymorphic markers in the refined SCIDX1 region will greatly improve the accuracy of carrier detection and prenatal diagnosis for SCIDX1.


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