title: Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene.
abstract: Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism analysis and antithetic forms of the polymorphic exons were linked with each other, cosegregating as distinct sequence haplotypes. In Finnish, German, and Russian populations a total of 18 haplotypes were observed of possible 72 haplotypic combinations 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, indicating that there may be recombinational hotspots within the F13A gene region.
authors.affiliation: Department of Legal Medicine, Osaka Medical College, Takatuski, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
authors.forename: J
authors.initials: J
authors.lastname: Henke
authors.forename: M
authors.initials: M
authors.lastname: Iwata
authors.forename: L
authors.initials: L
authors.lastname: Henke
authors.forename: H
authors.initials: H
authors.lastname: Tsuji
authors.forename: T
authors.initials: T
authors.lastname: Fukunaga
authors.forename: G
authors.initials: G
authors.lastname: Ishimoto
authors.forename: M
authors.initials: M
authors.lastname: Szekelyi
authors.forename: S
authors.initials: S
authors.lastname: Ito
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D005091:Exons; D005176:Factor XIII / Q000235:genetics*; D005387:Finland; D005858:Germany; D006239:Haplotypes; D006801:Humans; D007564:Japan; D046911:Macromolecular Substances; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012426:Russia
chemical_list: D003062:Codon; D046911:Macromolecular Substances; D005176:Factor XIII