A Silent Gene (C3⁻) Producing Partial Deficiency of the Third Component of Human Complement

A family is described with 3 members in 3 generations being heterozygous for the silent gene C3⁻: one year-old girl, her mother and grandfather had half normal C3 levels and were apparently incompatible homozygous. No significant deviation in the total hemolytic complement activity, serum concentrat...

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Bibliographic Details
Published in:Human heredity 1978, Vol.28 (2), p.141-146
Main Authors: Hoppe, H.H., Goedde, H.W., Agarwal, D.P., Benkmann, H.-G., Hirth, L., Janssen, W.
Format: Article
Language:English
Subjects:
Blood Group Antigens
Complement C3 - deficiency
Complement C3 - genetics
Female
Genes
Heterozygote
Humans
Immunoglobulins - analysis
Infant
Male
Paternity
Pedigree
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Summary:A family is described with 3 members in 3 generations being heterozygous for the silent gene C3⁻: one year-old girl, her mother and grandfather had half normal C3 levels and were apparently incompatible homozygous. No significant deviation in the total hemolytic complement activity, serum concentration of Bf and C4 component was found in the affected individuals.
ISSN:0001-5652
1423-0062
DOI:10.1159/000152954