Open AccessPrenatal diagnosis of heterozygous deficiency of the second component of complement
Author(s) -
Kathleen E. Sullivan,
Jerry A. Winkelstein
Publication year - 1994
Publication title -
clinical and diagnostic laboratory immunology
Language(s) - English
Resource type - Journals
eISSN - 1098-6588
pISSN - 1071-412X
DOI - 10.1128/cdli.1.5.606-607.1994
Subject(s) - sibling , exon , heterozygote advantage , prenatal diagnosis , genetics , gene , biology , medicine , immunology , pregnancy , allele , fetus , psychology , developmental psychology
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.