Practical application of three polymorphic microsatellites in intron 40 of the human von Willebrand factor gene

Haemostasis. 1995 Nov-Dec;25(6):264-71. doi: 10.1159/000217171.

Abstract

Intron 40 of the human von Willebrand factor gene contains a region with variable-number tandem repeats (VNTR), type (ATCT)n, showing length polymorphism. In order to carry out family studies of von Willebrand's disease, we performed PCR procedures to analyze 3 previously described microsatellites from that region, both in normal individuals and in von Willebrand disease patients. Three pairs of primers were used to amplify independently nucleotides 1890-1991 (VNTR 1), 2215-2380 (VNTR 2) and 1640-1794 (VNTR 3) from intron 40. The observed heterozygosities (0.75, 0.73 and 0.86 for VNTRs 1, 2 and 3, respectively) were in good agreement with the expected heterozygosities derived from the allele frequencies (0.70, 0.73 and 0.79, respectively). Furthermore, the combination of the 3 VNTRs showed 96% of heterozygosity, which correspond with the 98% expected value under linkage equilibrium. Therefore, our conclusion is that the use of these 3 markers, especially VNTR 3, constitutes a rapid and reliable method for performing segregation studies in von Willebrand disease families.

MeSH terms

  • Alleles
  • Base Sequence
  • Case-Control Studies
  • DNA / genetics
  • Female
  • Gene Frequency
  • Genes, Dominant
  • Genotype
  • Heterozygote
  • Humans
  • Introns*
  • Linkage Disequilibrium
  • Male
  • Microsatellite Repeats*
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Genetic*
  • von Willebrand Diseases / genetics*
  • von Willebrand Factor / genetics*

Substances

  • von Willebrand Factor
  • DNA