Prenatal diagnosis of heterozygous deficiency of the second component of complement

Clin Diagn Lab Immunol. 1994 Sep;1(5):606-7. doi: 10.1128/cdli.1.5.606-607.1994.

Abstract

Genetically determined C2 deficiency predisposes an individual to recurrent and invasive bacterial infections as well as a variety of rheumatic diseases. Most C2-deficient individuals carry the same 28-bp deletion in the sixth exon of the C2 gene. The present article reports the first prenatal analysis of a sibling of a C2-deficient patient; the sibling was found to be a heterozygous carrier of the 28-bp deletion of C2.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Base Sequence
  • Complement C2 / deficiency*
  • Complement C2 / genetics
  • Female
  • Genetic Carrier Screening
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Complement C2