Molecular defects in a human immunoglobulin kappa chain deficiencyWomen’s Health Research Faculty Publications
UMMS AffiliationDepartment of Molecular Genetics and Microbiology
SubjectsAnimals; Base Sequence; DNA, Recombinant; Genetic Engineering; Humans; Immunoglobulin kappa-Chains; Immunologic Deficiency Syndromes; Pedigree; Rabbits
AbstractThe molecular basis of a human immunoglobulin deficiency characterized by the complete absence of kappa chains has been investigated by nucleotide sequence analyses of a patient's kappa constant region (C kappa) genes. Both of his C kappa genes had a single point mutation, resulting in the loss of the invariant tryptophan from one allele and of an invariant cysteine from the other allele. These results indicate that neither of the patient's C kappa alleles encoded a kappa chain that could form a stable intradomain disulfide bond, although peculiarities in the expression of kappa chains in the patient's family suggest that other factors may be involved.
SourceScience. 1985 Oct 25;230(4724):458-61.
Related ResourcesLink to article in PubMed
Citation InformationJanet Stavnezer, O. Kekish and B. J. Zegers. "Molecular defects in a human immunoglobulin kappa chain deficiency" Vol. 230 Iss. 4724 (1985) ISSN: 0036-8075 (Print)
Available at: http://works.bepress.com/stavnezerj/78/