A new RFLP marker,SP282, at the btk locus for genetic analysis in X-linked agammaglobulinaemia families |
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| Authors: | Sau-Ping Kwan Ann P Walker Tracy Hagemann Sudhir Gupta Bharathi Vayuvegula Hans D Ochs |
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| Institution: | 1. Department of Pediatrics, University of California, Irvine, California, U.S.A.;2. Department of Immunology, Rush Medical School, Chicago, Illinois, U.S.A.;3. Medicine, University of California, Irvine, California, U.S.A.;4. Department of Pediatrics, University of Washington, Seattle, Washington, U.S.A. |
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| Abstract: | X-linked agammaglobulinaemia is an inherited recessive disease in which the primary defect lies in the failure of pre-B cells to develop into mature circulating B cells, due to a defective B-cell cytoplasmic tyrosine kinase (btk). For this study we introduced a new RFLP marker, SP282, which is tightly linked to the XLA locus. In conjunction with the marker DXS178, SP282 was used to identify a carrier female and predict her male offspring to be normal. Subsequently the fetus was shown to have a normal number of circulating B cells, and at 2·5 years of age, the non-affected phenotype of the child was confirmed. |
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| Keywords: | X-linked agammaglobulinaemia Xq21 3—Xq22 RFLP diagnosis B lymphocytes PUBS |
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