Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22 |
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| Authors: | Lovering Ruth; Middleton-Price Helen R; O'Reilly Marie-Anne J; Genet Sally A; Parkar Mohammed; Sweatman Angela K; Bradley Linda D; Alterman Lesley A; Malcolm Sue; Morgan Gareth; Levinsky Roland J; Kinnon Christine |
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| Institution: | Molecular Immunology, Institute of Child Health, University of London 30 Guifford Street, London WC1N 1EH, UK
1Molecular Genetics, Division of Cell and Molecular Biology, Institute of Child Health, University of London 30 Guifford Street, London WC1N 1EH, UK
2Clinical Genetics, Division of Public Health, Institute of Child Health, University of London 30 Guifford Street, London WC1N 1EH, UK |
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| Abstract: | Genetic linkage analysis has been instrumental in mapping thegene for X-linked agammaglobulinemia (XLA) to the proximal longarm of the human X chromosome, to Xq22. Due to the relativerarity of this disease the localization of the gene within Xq22has remained imprecise. We have investigated twenty-nine familiesaffected by XLA and have found no recombinants with the DXS178locus in over 30 informative meioses. DXS178 is now the mostreliable and informative locus for use in pre-natal diagnosisand carrier detection of XLA. In addition, we have identifiednew closely linked proximal and distal flanking markers forXLA, DXS442 and DXS101, respectively. These loci are separatedby 2cM, considerably reducing the extent of DNA within whichthe XLA locus can be contained. This will open up the way formore directed positional cloning efforts for the isolation ofthe XLA gene. |
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