Abstract for presentation at 11th International Congress of Human Genetics

Heterozygosity frequency of one VNTR polymorphism in intron 40 of VWF gene in patients with VWD, and in three native mexican groups

  • Dr Juan Palacios, Instituto Mexicano del Seguro Social, Mexico
  • Dr Rosenda Peñaloza, Instituto Mexicano del Seguro Social, Mexico
  • Dr Diego Arenas, Instituto Mexicano del Seguro Social, Mexico
  • Dr Leonora Buentello, Instituto de Investigaciones Antropológicas UNAM, Mexico
  • Mario Flores, Instituto Mexicano del Seguro Social, Mexico
  • Dr Carmen Navarrete, Instituto Mexicano del Seguro Social, Mexico
  • Dr Herminia Benítez, Instituto Mexicano del Seguro Social, Mexico
  • Dr Fabio Salamanca, Instituto Mexicano del Seguro Social, Mexico

    • Von Willebrand disease (VWD) is due to mutations related with the Von Willebrand Factor (VWF) gene. It is possible to analyze the segregation through of a variable number tandem repeat (VNTR) within intron 40 in families affected. The VNTR 1 (ATCT) shows high polymorphism. The objective of this work was to determinate the heterozygosity frequency of this molecular marker, and their number repeats in mestizo and Indigenous population. We evaluated 11 Mexican mestizo families (parents and children) with at least one VWD case, and three Mexican native populations, 17 Purépechas, 19 Nahuas, and 20 Otomies, none related, and with no familiar bleeding history, previous informed consent. We isolated nuclear DNA by standard methods and the interest segment was amplified by PCR using a pair of primers. We performed the analysis of these amplified products in polyacrilamide gels. As a result of this analysis we found the following heterozygosities for this VNTR: 69% for the patient group, 68% for the parents, 74% in the Nahuas, 59% in the Purépechas, and 95% in the Otomies. We also found 10 different alleles for this VNTR. These findings suggest a high heterozygosity rate; therefore we concluded that VNTR could be a potential molecular marker for segregational analysis in VWD in our Mexican population.

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