Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q |
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| Authors: | Alejandro A. Schäffer Jessica Pfannstiel A. David B. Webster Alessandro Plebani Lennart Hammarström Bodo Grimbacher |
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| Affiliation: | (1) Department of Health and Human Services, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bldg. 38A/Rm. 6S608; 8600 Rockville Pike, Bethesda, MD 20894, USA;(2) Division of Rheumatology and Clinical Immunology, Medical School, University of Freiburg, Freiburg, Germany;(3) Department of Clinical Immunology, Royal Free Hospital, London, UK;(4) Department of Pediatrics and Institute of Medicine “Angelo Novicelli”, University of Brescia, Brescia, Italy;(5) Division of Clinical Immunology, Karolinska Institute at Huddinge, Stockholm, Sweden |
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| Abstract: | Common variable immunodeficiency (CVID) is an antibody deficiency syndrome that often co-occurs in families with selective IgA deficiency (IgAD). Vořechovsky et al. (Am J Hum Genet 64:1096–1109, 1999; J Immunol 164:4408–4416, 2000) ascertained and genotyped 101 multiplex IgAD families and used them to identify and fine map the IGAD1 locus on chromosome 6p. We analyzed the original genotype data in a subset of families with at least one case of CVID and present evidence of a CVID locus on chromosome 16q with autosomal dominant inheritance. The peak (model-based) LOD score for the best marker D16S518 is 2.83 at θ=0.07, and a 4-marker LOD score under heterogeneity peaks at 3.00 with α=0.68. The (model-free) NPL score using the same markers peaks at the same location with a value of 3.38 (P=0.0001). |
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