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DNA polymorphism of the C2 and factor B genes
Authors:Susan J Cross  J H Edwards  David R Bentley  R Duncan Campbell
Institution:(1) Genetics Laboratory, Department of Biochemistry, South Parks Road, OX1 3QU Oxford, UK;(2) MRC Immunochemistry Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, UK
Abstract:Factor B and the second component of complement (C2) in man are encoded within the major histocompatibility complex by single loci that are less than 1 kb apart. A 2.3 kb factor B-specific cDNA probe has been used to examine, by Southern blot analysis, the genomic DNA of individuals typed for C2 and factor B by protein electrophoresis. We have identified a restriction fragment length polymorphism using the endonuclease Taq I, which subdivides haplotypes carrying both the common variant of C2 (C2C) and the fast (F) variant of factor B. This DNA polymorphism has been mapped to lie in the C2 gene and represents a new genetic marker not defined by protein electrophoresis. This polymorphism may serve as a useful marker in the genetic analysis of diseases that are related to the major histocompatibility complex.
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