title: Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects.
abstract: 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.
mesh_terms: D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values; D011503:Transglutaminases
chemical_list: D046911:Macromolecular Substances; D005176:Factor XIII; D011503:Transglutaminases; D004262:DNA Restriction Enzymes