Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case.
Close linkage between HL-A and C2 deficiency was first reported by FU and co-workers in 1974. We present here a pedigree of a 31-year-old C2-deficient individual with clinical manifestations of Hodgkins disease. The following markers were tested: C2 levels, factor B polymorphism, blood groups, and enzyme typing. In addition to close linkage between HL-A and C2 deficiency, both parents were heterozygous for Bf (HL-A linked, electrophoretic variation of B). The two HL-A haplotypes closely linked to C2 deficiency are different: 2, W18 and W24, W18. They share, however, the SD2 antigen W18 and the LD type 7a.
D000328:Adult; D003175:Complement C2 / Q000172:deficiency*; D003165:Complement System Proteins / Q000172:deficiency*; D008040:Genetic Linkage; D006680:HLA Antigens / Q000032:analysis; D006648:Histocompatibility; D006689:Hodgkin Disease / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007959:Lymphocyte Culture Test, Mixed; D008297:Male; D010375:Pedigree
D003175:Complement C2; D006680:HLA Antigens; D003165:Complement System Proteins