Frequency of haplotypes in the von Willebrand Factor gene in a selected sample of Mexican Mestizo population
Von Willebrand disease (vWD) is the most common congenital bleeding disorder in man. It is due to mutations in the von Willebrand Factor (vWF) gene, located at 12p13.3. The aim of the present work was to establish the frequency and the segregation patterns of the haplotypes in this gene in families from the Mexican Mestizo population. Similar studies have not been performed in this population. Nine nuclear none related families (parents and children) with at least one vWD patient were analyzed. DNA was isolated by standard methods. Five sites of the gene were amplified by PCR using informative primers. The following restriction enzymes were employed: Rsa I for exons 13 and 18, Msp I for intron 19,Kpn I for exon 28, and Aci I for exon 42. The haplotypes were established according to the presence or absence of the cutting site. Fifteen different haplotypes were found and the 62.5% correspond to the five more frequents, indicating linkage disequilibrium. The segregation patterns were informative in four families. The haplotype frequencies were similar to those in Malaysian an Hindu populations for Rsa I (exon 18) and for Msp I (intron 19) in Han Chinese population. The findings are useful in Genetic Counseling and contribute to the genetic characterization of the Mexican population.