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British Medical Bulletin 43:37-49 (1987)
© 1987 The British Council

research-article

The Molecular Genetics and Polymorphism of C2 and Factor B

R Duncan Campbell

MRC Immunochemistry Unit, Department of Biochemistry Oxford

Abstract

C2 and Factor B, components of the serum complement system, are encoded by single loci in the class III region of the human major histocompatibility complex on chromosome 6. The two genes are closely linked; the 3' end of the C2 gene lies only 421 base pairs from the 5' end of the Factor B gene. Detailed mapping and DNA sequence analysis has revealed that the Factor B gene, which is 6 kilobases in length and is split into 18 exons, is substantially shorter than the C2 gene which spans 18 kilobases of DNA. C2 and Factor B are polymorphic and structural variants have been detected by differences in charge. DNA sequence analysis of the two common alleles F and S has defined the molecular basis for allelic variation at the Factor B locus. In addition Southern blot analysis has revealed restriction fragment length polymorphism at the C2 and Factor B loci and this has resulted in the definition of a number of novel genetic variants not previously defined by protein typing.


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