Exon Amplification and Sequencing within the Oxytocin Receptor Gene (OXTR) among Persons with Alzheimer Disease

Student Author(s)

Jamie Johnson
Michelle Kerr

Faculty Mentor(s)

Dr. Emilie Dykstra Goris

Document Type


Event Date



Apathy, defined as a disorder of motivation, is a prevalent neuropsychiatric symptom among persons with Alzheimer Disease (AD). Variations in the Oxytocin Receptor Gene (OXTR), located on chromosome 3, are hypothesized to be candidate modifiers of apathy severity in persons with AD. The aims of this study were to design and successfully utilize primers and polymerase chain reaction (PCR) in order to amplify OXTR single nucleotide polymorphisms (SNPs) and coding regions of exons as a means to examine variations within OXTR that may be associated with apathy. Primer sets were designed to amplify coding regions of exon 3 and 4 within OXTR, using PCR, and were tested with lab control human DNA samples. Sequencing results indicated successful primer design and amplification of sections of exon 3 and 4 coding regions. Chromatograms of the sequencing results were used to obtain genotype data on both exon 3 and exon 4 for each human sample. Findings may contribute to a risk profile for identifying individuals with AD most at risk for apathy based on OXTR genotype.

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