Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man.
The chromosomal distribution of alleles for HLA-A,-B,-C, and -DR and the serum complement protein alleles of factor B and C2 and C4 was studied in normal Caucasian families. Eight combinations of HLA-B, DR, BF, C2, C4A, and C4B markers were found to occur in haplotypes at frequencies significantly higher than expected. In these combinations, which were defined as extended major histocompatibility complex haplotypes, HLA-A showed limited variation. A possible mechanism for the maintenance of extended haplotypes are human analogs of murine t mutants which are characterized by crossover suppression and male transmission bias. One human 6p haplotype, HLA-B8, DR3, SCO1, GLO 2, was found to be transmitted from males to 83% of their offspring. The same haplotype with GLO 1 had no transmission bias. It is suggested that this GLO 2-marked chromosome is a human analog of a murine t mutant.
D000483:Alleles; D003165:Complement System Proteins / Q000235:genetics*; D005692:Galactose Oxidase / Q000235:genetics; D005802:Genes, MHC Class II; D008040:Genetic Linkage; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006684:HLA-DR Antigens; D006801:Humans; D009154:Mutation
D006680:HLA Antigens; D006684:HLA-DR Antigens; D003165:Complement System Proteins; D005692:Galactose Oxidase