Evaluación del polimorfismo en el codón 129 del gen PRNP : estudio piloto Thesis

short description

  • Master's thesis

Thesis author

  • Santamaría Buitrago, David Eugenio

external tutor

  • Sanchez-Corredor, Magda-Carolina


  • The diseases caused by prions, called transmissible spongiform encephalophaties, are the product of a spontaneous convertion of the innocuous cell protein PrPC into its pathogen form, the PrPSc. It is still unknown how this convertion is undertaken, although there are known mutations that might induce it due to the interaction with prionic particles. There are also polymorphisms which increases the susceptibility to course with this type of diseases. The M129V polymorphism on the PRNP gene is associated with the susceptibility increase when the homozygous genotype for Methionine is found. The aim of this study is to analyze the distribution of the M129V polymorphism in the Colombian population and to compare it with some populations reported in the literature. In the present study the fragment that harbors the M129V variant was amplified by PCR, in 202 unrelated Colombian individuals of both genders. The RFLPs were done by using the restriction enzyme NspI. The genic and genotypic frequencies and the adjustment to the Hardy-Weinberg equilibrium were calculated using the GENEPOP software. This study shows that the distribution of the M129V polymorphism in the Colombian population is similar to Spanish and Danish and different from the other Caucasian ones, also it is different from the Korean population, the only Asian population included in the analysis. As a conclusion, it can be said that the distribution of the polymorphism in the Colombian population is similar to others because the allele that codifies for Methionine is the most frequent on the population. Furthermore no geographical, historical, or genetic gradient can be established since some populations that are close in the geographical and historic way showed statistical differences on their frequencies, while some that are not close enough, show similarities on their frequencies. The risk of the Colombian population to develop prion diseases is not known so far.

publication date

  • April 11, 2012 4:48 PM


  • Polymorphism
  • Prions

Document Id

  • 12407bf4-898e-4200-836b-b4bb4f45b4fb