Author ORCID Identifier

https://orcid.org/0000-0001-6633-2882

Document Type

Dissertation

Date of Award

2023

Degree Name

Doctor of Philosophy (PhD)

Department

Basic Biomedical Science

First Advisor

Erik A Ehli

Abstract

The study of genetics has contributed to countless discoveries related to human health and disease. However, the complexities of human biology reside not only in the genome but also in the contributions from environmental exposures, as measured via the classical twin design. To understand the influence of biological exposures, I implemented study designs to explore both the health associations and propagation of foreign genetic material. Microchimerism has been studied for association with several clinical conditions, and I further investigated if male microchimerism could elucidate the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. Prevalence of male microchimerism in women with no history of pregnancy has led to many hypotheses regarding the source of male genomic material. To better understand this, the results from study of male microchimerism among the female members of two generations of twin pedigrees provided insight into the prevalence and variance of the chimerism phenomenon. Emergence of the SARS-CoV-2 pandemic required the implementation of molecular genetic methods for detection of viral genome in collected samples and my study of clinical measures in a Midwestern American population revealed associations with viral dynamics within the community. The findings from this work provide insight into the prevalence, propagation, and implications of minor genomic populations and supports further application of quantitative measures to explore diverse contributors to human health and disease. Many important scientific discoveries will rely on quantitative molecular methods to further understand the influence and dynamics of diverse biological exposures.

Subject Categories

Biology | Genetics | Molecular Biology

Keywords

Chimera, Chimerism, Genetics, Microchimerism, Molecular Biology, SARS-CoV-2

Number of Pages

235

Publisher

University of South Dakota

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