Abstract
Deficiency of the seventh component of complement (C7D) is frequently associated with recurrent neisserial infections. We report in the present study the genetic basis for C7D in a Spanish family. We used exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) analysis as a screening step for mutations, followed by direct sequencing of the target exon. The mutation in the proband was a homozygous G-to-T transversion at nucleotide 1957, the first nucleotide of the codon GAG for Glu-631, leading to a stop codon TAG (E631X). Our result provides further evidence that the molecular pathogenesis of C7D is heterogeneous.
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Received: October 20, 1998 / Accepted: December 25, 1998
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Horiuchi, T., Ferrer, J., Serra, P. et al. A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency. J Hum Genet 44, 215–218 (1999). https://doi.org/10.1007/s100380050146
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DOI: https://doi.org/10.1007/s100380050146
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