Abstract for presentation at 11th International Congress of Human Genetics

Introduction: von Willebrand disease (VWD) is the most frequent disorder on the coagulation in the human population (1-2 %), characterized by bleeding in mucocutaneous region. Mutations in VWF gene located on the chromosome 12, produce different variants of the disease. The identification of mutations associated to the disease is important to determine relations between genotype-phenotype and to know specific changes in the Mexican population, data that from a molecular point of view we are not known. The objective of this work was to identify mutations in VWF gene, reason why we studied 20 Mexican mestizo patients non-related, with VWD.
Methods: DNA of lymphocytes of peripheral blood of patients with VWD was extracted by standard methods. We amplified 18, 19, 28, and 52 exons because are the most frequently altered (http://www.shef.ac.uk/vwf/). We used PCR amplifications with specific primers previously reported and designed in our lab. PCR products were directly sequenced with Big Dye Terminator sequencing kit (Applied Biosystems) and ABI 310 genetic analyzer (Applied Biosystems) according to manufacturer’s instructions.
Results: We identified one new mutation in exon 18 in a patient with VWD type 2N, two polymorphisms in exon 18, one polymorphism in exon 19 and one in exon 28 previously informed by Sadler & Ginsburg 1993, for patients with VWD 1. Moreover we found two new mutations in exon 28 (see Table 1).
Conclusions: This study shows a correlation between mutations in VWF gene and VWD type, and permit us to know better the Mexican population that show old and new mutations because Mexicans are a mixture of Indigenous, Caucasian and African populations.