The structure and genetics of the C2 and factor B genes.
This review summarises our current knowledge of the genetic organisation, structure and polymorphism of the loci for the complement proteins, C2 and Factor B--class III gene products of the major histocompatibility complex. cDNA probes specific for C2 and Factor B have been used to screen cosmid libraries of human genomic DNA, and this has allowed isolation and characterisation of the corresponding genes. Southern blot analysis of the cosmid clones and of uncloned genomic DNA has shown that there are single C2 and Factor B loci that are less than 500 bp apart. Molecular mapping has revealed that the C2 gene spans approximately 18 kb of DNA. This is in marked contrast to the Factor B gene which is 6 kb in length. The entire gene structure of the Factor B gene has been determined and the interesting features of this gene which have emerged from an examination of the intron-exon boundaries are discussed. C2 and Factor B are polymorphic and structural variants have been detected by differences in charge. The degree of polymorphism at the C2 and Factor B loci has been examined by Southern blot analysis of restriction digests of genomic DNA. Three DNA polymorphisms have been identified in the C2 gene. These polymorphisms subdivide the common allelic variant of C2 (C2C) and reveal that there is much greater variability at the C2 locus than that detected by protein typing. It is suggested that these DNA polymorphisms may serve as useful markers in the genetic analysis of diseases that are related to the major histocompatibility complex.
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003175:Complement C2 / Q000235:genetics*; D011415:Complement Factor B / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004792:Enzyme Precursors / Q000235:genetics*; D005796:Genes; D014644:Genetic Variation; D006801:Humans; D008285:Major Histocompatibility Complex; D011110:Polymorphism, Genetic
D003175:Complement C2; D004792:Enzyme Precursors; D004247:DNA; D011415:Complement Factor B