title: Complex variability of intron 40 of the von Willebrand factor (vWF) gene.
abstract: Intron 40 of the von Willebrand factor (vWF) gene exhibits a highly variable region of about 0.65 kb, which contains 5 juxtaposed STRs. We sequenced 0.65 kb amplicons from 68 chromosomes and found 2 frequent indel polymorphisms and 5 SNPs. The 68 chromosomes investigated here presented a total of 47 different haplotypes. Regarding the SNP allele distribution in our sample, we arranged our results of the vWF intron 40 into a system of 3 haplotypes, i.e. haplotypes a, b and c. Our review may be valuable in further optimising vWF typing in forensic applications and in avoiding pitfalls. Further attempts to develop sophisticated techniques may soon enable haplotyping using autosomale STR clusters.
authors.affiliation: Institut für Rechtsmedizin, Technische Universität Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.
authors.forename: Sandra
authors.initials: S
authors.lastname: Hering
authors.forename: Christa
authors.initials: C
authors.lastname: Augustin
authors.forename: Jeanett
authors.initials: J
authors.lastname: Edelmann
authors.forename: Micaela
authors.initials: M
authors.lastname: Heidel
authors.forename: Kathrin
authors.initials: K
authors.lastname: Chamaon
authors.forename: Jan
authors.initials: J
authors.lastname: Dressler
authors.forename: Reinhard
authors.initials: R
authors.lastname: Szibor
mesh_terms: D006239:Haplotypes; D006801:Humans; D007438:Introns / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D020080:Tandem Repeat Sequences; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor