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A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.
- Source :
-
Immunogenetics [Immunogenetics] 1988; Vol. 27 (4), pp. 259-64. - Publication Year :
- 1988
-
Abstract
- Southern blot analysis of the B-chain genes in one of eight C1q-deficient individuals revealed an abnormal banding pattern. The defect, which was homozygous, could be localized by restriction mapping to a single Taq I site within residue 150 in the coding region of the B-chain gene. DNA sequencing across the site revealed a stop codon that would cause premature termination of the protein product. No material corresponding to the A or C chains, or a truncated B chain, could be identified by antigenic analysis of the patient's serum, indicating that a complete B chain is required for secretion of a C1q molecule.
Details
- Language :
- English
- ISSN :
- 0093-7711
- Volume :
- 27
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Immunogenetics
- Publication Type :
- Academic Journal
- Accession number :
- 2894352
- Full Text :
- https://doi.org/10.1007/BF00376120