Determinación de la frecuencia del haplotipo H1/H2 de MAPT en muestras de población mestiza mexicana.

Pathological and genetic studies have positioned the microtubule associated protein Tau (MAPT 17q21.1) in the center of the pathogenesis of several diseases known as tauopathies: progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), Alzheimer's disease (AD), frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), neurodegeneration with brain iron accumulation 1 (NBIA1), complex of parkinsonism-dementia of Guam, Pick's disease and Parkinson's disease (PD) among others. MAPT locus is structurally complex, containing a polymorphism of approximately 900 kb; this polymorphism creates tow reverse orientation, non-recombinant, haplotypes, H1 and H2, with a ~283pb deletion. In this study we ascertained the frequency of H1 and H2 alleles and the genotypes determined by them, the control group showed the next allelic frecuencies: 88.78% for the H1, 11.22% for the h2 allele; for the haplotypes H1/H1; H1/H2 and H2/H2 the frequencies were of 80.49%, 16.59% and 2.93%, respectively all of these haplotypes were in Hardy-Weinberg equilibrium. In the patient group H1 allele showed a frequency of 91.73% and H2 allele of 8.27%. The haplotypes frecuency were: 83.46% for H1/H1 and 16.54% for H1/H2, no H2/H2 subjects were observed, these frequencies were not in Hardy-Weinberg equilibrium. When comparing both groups, a significant statistically difference in terms of the genotype, sex and age, only a trend marked by the absence of H2/H2 genotype in the group of patients with PD. The allelic frequency for H1 is similar to that reported in North American, European and Asian populatios, while the H2 allelic frequency is lower than that reported for Caucasians, although higher than in Africa and Asia, likewise, different with other American populations (Colombia and Brazil) This is the first study that determinates the allelic and genotypes frequencies of MAPT H1 and H2 in a sample of Mexican mestizo subjects. [ABSTRACT FROM AUTHOR]