NOVEL POLYMORPHISMS AND HAPLOTYPES IN THE HUMAN COAGULATION-FACTOR-XIII A-SUBUNIT GENE

Novel polymorphic sites within the coding region of the human coagulat ion factor XIII A-subunit (F13A) gene and their haplotypic combination s with the other polymorphic sites thus far:reported are presented. Po lymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using sin gle strand conformational polymorphism analysis and antithetic forms o f the polymorphic exons were linked with each other, cosegregating as distinct sequence haplotypes. In Finnish, German, and Russian populati ons a total of 18 haplotypes were observed of possible 72 haplotypic c ombinations of the 5 exons. Ten of the haplotypes detected were found to have no novel mutations but to be only combinations of preexisting mutations. No tightly associated combinations in pairwise comparisons between antithetic forms of the polymorphic exons were observed, indic ating that there may be recombinational hotspots within the F13A gene region.