Prenatal diagnosis of heterozygous deficiency of the second component of complement.
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.
Sullivan
K E
KE
Division of Allergy, Immunology, and Infectious Diseases, Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
Winkelstein
J A
JA
D000328:Adult; D001483:Base Sequence; D003175:Complement C2 / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
D003175:Complement C2