Metabolism of C4 and linkage analysis in a kindred with hereditary incomplete C4 deficiency.
We studied a kindred in which C4 deficiency had been discovered. Unlike families with total absence of C4, in this kindred C4 deficiency was found to be incomplete, autosomal dominant, not caused by null alleles, and not associated with a high incidence of systemic lupus erythematosus. The deficient state was caused by hyposynthesis of C4, not by hypercatabolism. The locus for incomplete C4 deficiency was not closely linked to the major histocompatibility complex. The abnormal autosomal dominant allele is, apparently, rare, and how it causes decreased synthesis of C4 is unknown.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003181:Complement C4 / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008285:Major Histocompatibility Complex; D008297:Male; D010375:Pedigree
D003181:Complement C4; D005819:Genetic Markers