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Biology Students Present Poster at Thomas Jefferson University Sigma XI Student Research Day
Developing a Protocol for Rapid Identification of SNPs Associated
with Dyslexia. Recent studies have suggested that cerebellar function is impaired in
individuals with dyslexia. Eye-blink conditioning is a method to measure
cerebellar function and may discriminate between dyslexic and non-dyslexic
individuals. Many susceptibility loci have been identified on 8 different
chromosomes, indicating a strong genetic component for dyslexia. Specifically,
KIAA0319, a locus on chromosome 6, containing two SNPs, have shown a significant
relationship to a dyslexia diagnosis, but is undefined in molecular function.
The ultimate goal of our research is to compare the results of cerebellar
function testing to the SNPs known to be associated to dyslexia. This
genotype to phenotype study will help to elucidate the molecular mechanism
behind this impairment as well as clarify the efficacy of these specific
methods for dyslexia diagnosis. To that end, we have developed a molecular
genetic protocol for genotyping individuals tested by eye-blink conditioning.
Additionally we developed a nested PCR method for genotyping DNA of low
quality. Having created these consistent and sensitive genotyping methods,
we have begun to compare our results to the outcomes of the eyeblink conditioning.
Our preliminary data suggests a relationship between the SNPs and eye-blink
conditioning. Further work could better automate the genotyping process
by using fluorescent primers and fragment analysis via an automated DNA
sequencer.
RAPD-PCR as a Novel Method for DNA Fingerprinting. The specificity of "DNA Fingerprinting" techniques may be the
root of their shortcomings. These methods use long primers to target specific
variable loci which comprise less than 0.01% of the total genome. While
these analyses are powerful, they may fall short when the compared DNA's
are similar. Our research explored the efficacy of a potentially more
comprehensive method, RAPD-PCR. While RAPD's are less specific, they do
increase the proportion of the genome analyzed in the process. Our research
compared the RAPD profiles using three replicates of eight tissue samples
from three genetically diverse mice. Some areas of variability in the
profiles indicated that this method can detect even the small mutational
differences that might accrue within the same individual.
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