Genetic analysis of C4 deficiency

Genetic analysis of C4 deficiency

The inherited structural polymorphism in the fourth component of complement was studied in the family of a child with homozygous deficiency of this protein. It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detec...

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Veröffentlicht in:The Journal of clinical investigation 1981-01, Vol.67 (1), p.260-263
Hauptverfasser: Awdeh, Z L, Ochs, H D, Alper, C A
Format: Artikel
Sprache:eng
Schlagworte:
Chromosome Mapping
Complement C4 - deficiency
Complement C4 - genetics
Female
Genes
Genotype
Humans
Immunologic Deficiency Syndromes - genetics
Male
Pedigree
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Beschreibung
Zusammenfassung:The inherited structural polymorphism in the fourth component of complement was studied in the family of a child with homozygous deficiency of this protein. It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detectable protein at either the Chido (C4B) or Rodgers (C4A) locus. The family contained individuals with one, two, three, or four expressed C4 genes, and the mean serum C4 levels in such individuals roughly reflected the number of structural genes.
ISSN:0021-9738
DOI:10.1172/JCI110021