A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual
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- McAdam, R.A., Goundis, D. & Reid, K.B.M. Immunogenetics (1988) 27: 259. doi:10.1007/BF00376120
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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.