Molecular defects in a human immunoglobulin kappa chain deficiency
UMass Chan Affiliations
Department of Molecular Genetics and MicrobiologyDocument Type
Journal ArticlePublication Date
1985-10-25Keywords
AnimalsBase Sequence
DNA, Recombinant
Genetic Engineering
Humans
Immunoglobulin kappa-Chains
Immunologic Deficiency Syndromes
Pedigree
Rabbits
Life Sciences
Medicine and Health Sciences
Women's Studies
Metadata
Show full item recordAbstract
The 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.Source
Science. 1985 Oct 25;230(4724):458-61.
DOI
10.1126/science.3931219Permanent Link to this Item
http://hdl.handle.net/20.500.14038/50727PubMed ID
3931219Related Resources
ae974a485f413a2113503eed53cd6c53
10.1126/science.3931219