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Reports Of Autosomal Recessive Disease And Consanguineous Mating Within The Human Population, Johnathon L. Schluter
Reports Of Autosomal Recessive Disease And Consanguineous Mating Within The Human Population, Johnathon L. Schluter
Master's Theses
It is anecdotally evident when investigating published reports of autosomal recessive disease that a substantial number of cases are the result of related (consanguineous) mating. This research seeks to quantify the percent of manuscripts describing autosomal recessive diseases published between 2000 and 2020 in which consanguineous mating is indicated. We analyzed 602 peer-reviewed manuscripts to identify the percentage of cases presented in which consanguineous mating was indicated, the underlying genes (novel gene or new mutation) and geographical region. These papers were accessed through a specific set of parameters on the free access PubMed Central (PMC) database. A total of 552 …