Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects

Several RFLPs have been detected using a cDNA fragment encoding the amino-terminal half of the A subunit of factor XIII. The RFLPs show little linkage disequilibrium and form many different haplotypes that can be used to identify chromosomes transmitting factor XIII A subunit deficiency. Southern blot analysis of three deficient individuals from two families showed that, in these cases, factor XIII A subunit deficiency did not result from a major gene deletion or rearrangement. Factor XIII A subunit deficiency was found to be associated with three different haplotypes, suggesting heterogeneity in the mutations causing this disorder.