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Analysis of SWAP-70 as a Candidate Gene for Non-X-Linked Hyper IgM Syndrome and Common Variable Immunodeficiency

Rapalus, Lisa ; Minegishi, Yoshiyuki ; Lavoie, Aubert ; Cunningham-Rundles, Charlotte ; Conley, Mary Ellen

Clinical immunology (Orlando, Fla.), 2001-12, Vol.101 (3), p.270-275 [Periódico revisado por pares]

San Diego, CA: Elsevier Inc

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Título:
Analysis of SWAP-70 as a Candidate Gene for Non-X-Linked Hyper IgM Syndrome and Common Variable Immunodeficiency
Autor: Rapalus, Lisa ; Minegishi, Yoshiyuki ; Lavoie, Aubert ; Cunningham-Rundles, Charlotte ; Conley, Mary Ellen
Assuntos: antibody deficiency ; B cell development ; Biological and medical sciences ; class switch recombination ; Common Variable Immunodeficiency - genetics ; CVID ; DNA-Binding Proteins - genetics ; Female ; genetic analysis ; Genetic Linkage ; Guanine Nucleotide Exchange Factors ; Humans ; hyper IgM syndrome ; Hypergammaglobulinemia - genetics ; Immunodeficiencies ; Immunodeficiencies. Immunoglobulinopathies ; Immunoglobulin M - genetics ; Immunoglobulinopathies ; Immunopathology ; isotype switch ; Male ; Medical sciences ; Minor Histocompatibility Antigens ; Mutation ; nuclear export signals ; Nuclear Proteins - genetics ; polymorphic variants ; Polymorphism, Genetic ; Recombination, Genetic ; SWAP-70 protein ; Syndrome ; X Chromosome
É parte de: Clinical immunology (Orlando, Fla.), 2001-12, Vol.101 (3), p.270-275
Notas: ObjectType-Article-2
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Descrição: 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.
Editor: San Diego, CA: Elsevier Inc
Idioma: Inglês

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Analysis of SWAP-70 as a Candidate Gene for Non-X-Linked Hyper IgM Syndrome and Common Variable Immunodeficiency

Rapalus, Lisa ; Minegishi, Yoshiyuki ; Lavoie, Aubert ; Cunningham-Rundles, Charlotte ; Conley, Mary Ellen

San Diego, CA: Elsevier Inc

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