[Genetics of complement: recent aspects (author's transl)].
Genetic deficiencies of complement proteins are now more often recognized and analysed more precisely because the structure of the different complement proteins is better known. Partial defects may be detected in some components by the combined utilization of titration techniques, polymorphism studies and linkage analyses. The partial deficiency in C4 seems to be the most frequent protein deficiency in the human. The complement markers on the short arm of the sixth chromosome in man (BF, C2, C4A and C4B) are located in close proximity to the HLA-D/DR region. The combined study of the complement and HLA markers will probably allow the fine structure of the HLA region to be better defined. The association of some diseases with HLA types will probably also be better specified by the definition of associations not only with HLA-B or HLA-D types but also with the BF, C2 and C4 types.
D000818:Animals; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency; D003175:Complement C2 / Q000235:genetics; D003176:Complement C3 / Q000172:deficiency; D003180:Complement C3b Inactivator Proteins / Q000172:deficiency; D003181:Complement C4 / Q000235:genetics; D003170:Complement Pathway, Alternative; D003171:Complement Pathway, Classical; D003165:Complement System Proteins / Q000172:deficiency / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D051379:Mice; D011110:Polymorphism, Genetic
D003174:Complement C1 Inactivator Proteins; D003175:Complement C2; D003176:Complement C3; D003180:Complement C3b Inactivator Proteins; D003181:Complement C4; D006680:HLA Antigens; D003165:Complement System Proteins
Génétique du complément: aspects récents.