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

Haemostasis
P CasañaJ I Jorquera

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.

Citations

Nov 12, 2009·International Journal of Legal Medicine·Miriam MüllerBernd Brinkmann
Feb 1, 1997·Development, Growth & Differentiation·K YamazakiI Yasumasu
Jul 22, 2008·Haemophilia : the Official Journal of the World Federation of Hemophilia·S KeeneyUNKNOWN UK Haemophilia Centre Doctors' Organisation (UKHCDO)

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