Bachelor of Science
Major or Concentration
Smith-Magenis Syndrome (SMS) is a human genetic disorder that is caused by either a deletion within chromosomal region 17p11.2 or a mutation of a gene in that region –the RAI1 gene. The most prominent phenotypes observed with this disorder are mental retardation, distinctive craniofacial features, and sleep disorders caused by an inverted pattern of serotonin secretion. The current methods for molecular detection of Smith-Magenis Syndrome are reliable for the detection of the deletions within chromosomal region 17p11.2, but are not reliable in detecting mutations with the RAI1 gene. One way to enhance the detection of RAI1 mutations is with the use of Single Nucleotide Polymorphisms (SNPs). SNPs are discrete polymorphisms within the genome of individuals that allow for a high resolution map of the genome to be constructed. This map can then be used in order to determine if there are particular SNPs associated with particular human disorders. If there are, then the SNPs can be used for diagnosis of these disorders. The goal of this research project was to determine if there are any SNPs prominently associated with SMS patients. This method may lead to an improved diagnosis for patients with phenotypes associated with SMS, but do not have a deletion of DNA in the appropriate region of chromosome 17. Detection of abnormalities utilizing SNPs may also help individuals with other genetic disorders as well.
Cox, Tyler Andrew, "Bioinformatic Study of SNPs and Phenotypes In Patients With Smith-Magenis Syndrome" (2009). Student Research Submissions. 4.