title: Study of genetic polymorphism of seventh complement component in two families with hereditary deficit.
abstract: The results of an allelic segregation of C6 and C7 were studied in two Spanish families that have members with C7 deficiency. Absence of C7 in the affected siblings and half of the normal values in their parents were found in both families. The variant responsible for the deficiency (C7Q*0) follows a codominant autosomic inheritance pattern. Establishing allotypes of C6 and C7 by isoelectrofocusing followed by electrophoretic immunoblotting allowed haplotype assignments. In both families the haplotype form responsible for the deficiency seemed to be related to the C6B allotype.
authors.affiliation: Hospital N.S. Covadonga, Oviedo, Spain.
authors.forename: C
authors.initials: C
authors.lastname: López-Larrea
authors.forename: O
authors.initials: O
authors.lastname: Dominguez
authors.forename: E
authors.initials: E
authors.lastname: Martinez-Naves
authors.forename: E
authors.initials: E
authors.lastname: Coto
mesh_terms: D000483:Alleles; D003183:Complement C6 / Q000235:genetics; D003184:Complement C7 / Q000172:deficiency* / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007126:Immunoglobulin Allotypes / Q000032:analysis; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D003183:Complement C6; D003184:Complement C7; D007126:Immunoglobulin Allotypes