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A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual

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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 Clq molecule.

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Author notes

  1. Ruth A. McAdam

    Present address: Department of Immunology, University of Birmingham, The Medical School, Vincent Drive, B15 2TJ, Birmingham, UK

Authors and Affiliations

  1. Department of Biochemistry, MRC Immunochemistry Unit, South Parks Road, OX1 3QU, Oxford, UK

    Ruth A. McAdam, Dimitrios Goundis & Kenneth B. M. Reid

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  1. Ruth A. McAdam
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  2. Dimitrios Goundis
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  3. Kenneth B. M. Reid
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McAdam, R.A., Goundis, D. & Reid, K.B.M. A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. Immunogenetics 27, 259–264 (1988). https://doi.org/10.1007/BF00376120

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  • DOI: https://doi.org/10.1007/BF00376120

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