Date of Award

Spring 5-25-2024

Document Type

Thesis

Degree Name

Master of Science (MS)

Department

Biological Science

First Advisor

Jeff Shultz

Abstract

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 manuscripts remained after vetting. A total of 384 (65.9%) of these 553 publications reported a consanguineous mating and were skewed to novel mutations (44.5%), rather than novel genes (7.5%). We also found a substantial population location effect on these data. These data indicate that consanguineous mating is a major factor for identifying novel sequence mutations in recurring autosomal recessive disease and for identifying the underlying mutation in novel recessive diseases.

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