title: Fine mapping of the human SCIDX1 locus at Xq12-13.1.
abstract: 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.
authors.affiliation: INSERM U132, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Markiewicz
authors.forename: J P
authors.initials: JP
authors.lastname: DiSanto
authors.forename: J
authors.initials: J
authors.lastname: Chelly
authors.forename: N
authors.initials: N
authors.lastname: Fairweather
authors.forename: B
authors.initials: B
authors.lastname: Le Marec
authors.forename: C
authors.initials: C
authors.lastname: Griscelli
authors.forename: M B
authors.initials: MB
authors.lastname: Graeber
authors.forename: U
authors.initials: U
authors.lastname: Müller
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D003360:Cosmids; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D015723:Gene Library; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D014960:X Chromosome
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers