Caro-Monroig, Angelia

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    Distribution and frequencies of medicaly relevant mutations in the Puerto Rican population
    (2018-05) Caro-Monroig, Angelia; Oleksyk, Taras K.; College of Arts and Sciences - Sciences; Martínez-Cruzado, Juan C.; Majeske, Audrey; Velez, Ana; Department of Biology; Zapata Medina, Rocio
    Detection of medically related mutations is fundamental to both the successful treatment and overall improvement in the quality of life for human populations with increased susceptibility to human disorders. On the population level, the identification of people with higher risk for diseases are necessary for maximizing detection and early intervention. The Puerto Rican population is ethnically rich, consisting of a contribution of three ancestral populations from Africa, Europe and native America, and it is expected for inherited disease prevalence to vary greatly due to the local genetic differences. It is useful to map the genetic component of inherited diseases across the island to provide a baseline for future epidemiological studies. In this study, we used the available genome sequences from the 1000 Genomes Project (PUR) and an additional subset of samples representing the entire island’s population (LGDS) that was genotyped with Illimina TruSeq exome panel. Replicate analysis was conducted for each municipality to estimate genotyping errors. In the Puerto Rican population from the 1000 Genomes Project as well as in the LGDS cohort, these markers show frequencies close to what is expected in the European population. However, some genes show population frequencies that deviate significantly (>2 s2 away) from the combined distribution. Most of these exceptions can be explained by the African admixture altering the frequencies of the alleles in Puerto Ricans when the frequencies of those alleles in Africa are highly different to those in Europe, but there are notable exceptions indicating that other evolutionary processes such as drift and selection may also be determining frequencies of the medically relevant markers in the island population of Puerto Rico. This knowledge will be used to develop recommendations for the use of next generation sequencing technology in health service practices, specifically in neonatal testing for the presence of inherited diseases.