Fine mapping of the human SCIDX1 locus at Xq12-13.1.
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.
Markiewicz
S
S
INSERM U132, Hôpital Necker-Enfants Malades, Paris, France.
DiSanto
J P
JP
Chelly
J
J
Fairweather
N
N
Le Marec
B
B
Griscelli
C
C
Graeber
M B
MB
Müller
U
U
Fischer
A
A
Monaco
A P
AP
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
D004276:DNA, Satellite; D005819:Genetic Markers