Author

Date of Award

2017

Document Type

Dissertation/Thesis

Submission Date

October 2026

Thesis/Dissertation Advisor [Chair]

Yousefzadeh, Matt

Abstract

Xeroderma pigmentosum (XP) is a disease caused by defects in gene products involved in nucleotide excision repair (NER) and lesion bypass. Individuals with XP are unable to repair DNA damage caused by UV light and thus are extremely sensitive to sunlight. XP is generally diagnosed by measuring unscheduled DNA synthesis (UDS) in response to UV irradiation of cells. Low levels of UDS indicate a low or nonexistent capacity for NER and leads to diagnosis of XP. This is typically done using autoradiography or a fluorescence assay on adherent fibroblasts collected from the patient. However, these methods are time and energy intensive, taking up to three months for results. My project involves development of an assay that uses fluorescently labelled nucleotides and flow cytometry to measure UDS in peripheral blood mononuclear cells. This assay gives results in 24 hours, allowing for more rapid diagnosis of XP.

Comments

Includes bibliography.

Extent

36 p.

Identifier

FA00012646

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