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1.
J Clin Invest ; 97(1): 196-201, 1996 Jan 01.
Article in English | MEDLINE | ID: mdl-8550833

ABSTRACT

Mutations in the gene for CD40 ligand are responsible for the X-linked form of hyper IgM syndrome. However, no clinical or laboratory findings that reliably distinguish X-linked disease from other forms of hyper IgM syndrome have been reported, nor are there tests available that can be used to confidently provide carrier detection. To identify efficiently mutations in the gene for CD40 ligand, eight pairs of PCR primers that could be used to screen genomic DNA by single strand conformation polymorphism (SSCP) were designed. 11 different mutations were found in DNA from all 13 patients whose activated T cells failed to bind a recombinant CD40 construct. The exact nature of four of these mutations, a deletion and three splice defects, could not be determined by cDNA sequencing. In addition, SSCP analysis permitted rapid carrier detection in two families in whom the source of the mutation was most likely a male with gonadal chimerism who passed the disorder on to some but not all of his daughters. These studies document the utility of SSCP analysis for both mutation detection and carrier detection in X-linked hyper IgM syndrome.


Subject(s)
DNA Mutational Analysis , Hypergammaglobulinemia/genetics , Immunoglobulin M , Membrane Glycoproteins/genetics , Polymorphism, Single-Stranded Conformational , X Chromosome , Base Sequence , CD40 Ligand , Child , Child, Preschool , DNA Primers/genetics , Female , Genetic Carrier Screening , Genetic Linkage , Humans , Infant , Lymphocyte Activation , Male , Molecular Sequence Data , Pedigree , Polymerase Chain Reaction/methods , Syndrome , T-Lymphocytes/chemistry , T-Lymphocytes/immunology
2.
Pediatrics ; 92(4): 635-6, 1993 Oct.
Article in English | MEDLINE | ID: mdl-8129812
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