Characterizing Intergenic Tandem Repeats and Their Implications on Adolescent Idiopathic Scoliosis
Open Access
Author:
Brogan, Carly
Area of Honors:
Biobehavioral Health
Degree:
Bachelor of Science
Document Type:
Thesis
Thesis Supervisors:
David John Vandenbergh, Thesis Supervisor Helen Marie Kamens, Thesis Honors Advisor
Keywords:
adolescent idiopathic scoliosis tandem repeats linkage disequilibrium genetics molecular genetics single nucleotide polymorphisms
Abstract:
Adolescent Idiopathic Scoliosis (AIS) impacts 4 out of every 100 adolescents (Konieczny et al., 2013). The exact etiology of AIS is currently unknown with ongoing research exploring its genetic basis and environmental influences (Kikanloo et al., 2019). The influence of genetics on the development and severity of AIS can be evaluated in analyzing genetic variation in individuals, particularly single nucleotide polymorphisms and tandem repeats. The variability of a tandem repeat locus within the intergenic region of the DRD4 and DEAF1 genes was evaluated via bioinformatic analysis of sixty-four long read sequences and two short-read sequences from the UCSC Genome Browser. The repeat was found to be polymorphic with 34 copy number variants. Additionally, the relation between an allele for SNP rs11604855 and alleles at the tandem repeat were analyzed to assess the linkage of the two variants. The two loci were not found to be in linkage disequilibrium. In other words, the number of copies of the tandem repeat was not associated with the presence of the minor A allele. Despite a significant association between the allele rs11604855 and the copy number of tandem repeats being found of -0.452 (p < 0.001), due to the limited sample size, the causal role of the tandem repeat in the development of AIS cannot be inferred.
