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Clinical and Diagnostic Laboratory Immunology, Sep 1994, 606-607, Vol 1, No. 5
Copyright © 1994 by the American Society for Microbiology. All rights reserved.

Prenatal diagnosis of heterozygous deficiency of the second component of complement

KE Sullivan and JA Winkelstein
Division of Allergy, Immunology, and Infectious Diseases, Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

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.




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Antimicrob. Agents Chemother. Clin. Microbiol. Rev. Infect. Immun.
J. Clin. Microbiol. J. Virol. ALL ASM JOURNALS

Copyright © 1994 by the American Society for Microbiology. All rights reserved.