Complex variability of intron 40 of the von Willebrand factor (vWF) gene.

  • Sandra Hering
  • Christa Augustin
  • Jeanett Edelmann
  • Micaela Heidel
  • Kathrin Chamaon
  • Jan Dressler
  • Reinhard Szibor

Beteiligte Einrichtungen

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.

Bibliografische Daten

OriginalspracheDeutsch
Aufsatznummer1
ISSN0937-9827
StatusVeröffentlicht - 2008
pubmed 17273877