Fine mapping of the human SCIDX1 locus at Xq12-13.1.

Journal article

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: Markiewicz, S; DiSanto, J; Chelly, J; Fairweather, N; Le Marec, B

• Publication status: Published
• Journal: Human molecular genetics
• Volume: 2
• Issue: 6
• Pages: 651-654
• Publication date: 1993-06-01
• DOI: 10.1093/hmg/2.6.651
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Molecular Sequence Data; Polymorphism, Genetic; Severe Combined Immunodeficiency; Female; Gene Library; Repetitive Sequences, Nucleic Acid; DNA, Satellite; X Chromosome; Heterozygote; Recombination, Genetic; Base Sequence; Chromosome Mapping; Humans; Pedigree; Alleles; Genetic Markers; Cosmids; Male