Analysis of SWAP-70 as a candidate gene for non-X-linked hyper IgM syndrome and common variable immunodeficiency
(c)2001 Elsevier Science.
| Veröffentlicht in: | Clinical immunology (Orlando, Fla.). - 1999. - 101(2001), 3 vom: 07. Dez., Seite 270-5 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , |
| Format: | Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2001
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| Zugriff auf das übergeordnete Werk: | Clinical immunology (Orlando, Fla.) |
| Schlagworte: | Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. DNA-Binding Proteins Guanine Nucleotide Exchange Factors Immunoglobulin M Minor Histocompatibility Antigens Nuclear Proteins SWAP70 protein, human |
| Zusammenfassung: | (c)2001 Elsevier Science. SWAP-70 is a recently identified protein that functions as the only B cell-specific component of an isotype switch recombination complex called SWAP. The SWAP complex has specificity for the switch regions upstream of the constant region immunoglobulin genes and it facilitates the transfer of DNA between switch regions. These features suggested that mutations in the gene encoding SWAP-70 might result in humoral immunodeficiency. To test this hypothesis we determined the genomic structure of this gene and used single-stranded conformational polymorphism (SSCP) analysis to screen DNA from 38 patients with either non-X-linked hyper IgM syndrome or common variable immunodeficiency. The results demonstrated that SWAP-70 consists of 12 exons spread over 89 kb at chromosome 11p15.2. SSCP analysis of the patient population revealed five polymorphic variants in the gene, one of which (Q505E) is an amino acid substitution in the putative nuclear export signal of SWAP-70. However, none of the alterations appeared to be associated with disease in the patients screened |
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| Beschreibung: | Date Completed 10.01.2002 Date Revised 24.11.2016 published: Print Citation Status MEDLINE |
| ISSN: | 1521-7035 |