Molecular defects in a human immunoglobulin κ chain deficiency Journal Article
| Authors: | Stavnezer-Nordgren, J.; Kekish, O.; Zegers, B. J. M. |
| Article Title: | Molecular defects in a human immunoglobulin κ chain deficiency |
| Abstract: | The molecular basis of a human immunoglobulin deficiency characterized by the complete absence of κ chains has been investigated by nucleotide sequence analyses of a patient's κ constant region (Cκ) genes. Both of his Cκ 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 Cκ alleles encoded a κ chain that could form a stable intradomain disulfide bond, although peculiarities in the expression of κ chains in the patient's family suggest that other factors may be involved. |
| Keywords: | case report; animal; heredity; gene expression; pedigree; immunoglobulin gene; genetic engineering; nucleotide sequence; base sequence; immune deficiency; immunoglobulin light chain; immunologic deficiency syndromes; etiology; rabbits; dna, recombinant; human; priority journal; support, non-u.s. gov't; support, u.s. gov't, p.h.s.; blood and hemopoietic system; immunoglobulins, kappa-chain |
| Journal Title: | Science |
| Volume: | 230 |
| Issue: | 4724 |
| ISSN: | 0036-8075 |
| Publisher: | American Association for the Advancement of Science |
| Date Published: | 1985-10-25 |
| Start Page: | 458 |
| End Page: | 461 |
| Language: | English |
| DOI: | 10.1126/science.3931219 |
| PUBMED: | 3931219 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 26 October 2021 -- Source: Scopus |
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