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Human Epigenetic Consequences

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Although not often discuessed in grade school, evolutionary mechanisms span further than simply the inheritance of “A-T-C-G” DNA nucleotides from our parents. Epigenetics is a specialized field within genetics that focuses on the evolutionary changes induced by genetic factors, such as transposons, and how they can cause an alteration of gene expression and disease. The study of the human epigenome is still relatively new, and exponentially advancing. With this being said, researchers still have questions regarding this complex evolutionary mechanism's implications in microevolution, and potentially macroevolution (Skinner, 2015). One major constituent of epigenetic study are transposable elements (also called transposons, or jumping genes). …show more content…

One common technique used to study Alu insertion polymorphisms within genomes utilizes polymerase chain reactions (PCR) in combination with agarose gel electrophoresis (Asari, 2012). PCR is utilized initially, in order to selectively amplify DNA sequences containing the Alu insertion. This technique employs sequence-specific primers and taq polymerase in order to carry out successive rounds of elongation (essentially, DNA replication). Once this is complete, it is common to use agarose gel electrophoresis and UV light to visualize the bands of separated DNA. In terms of this experiment, cheek cells were obtained from UNR students in the Biology 395 lab. Using the two described techniques, genotypic frequencies were calculated for the human-specific Alu insertion on chromosome 16: homozygous for the insertion (+/+) heterozygous for the insertion (+/-), and homozygous for the absence of insertion (-/-). As stated previously, the Alu element is the most abundant SINE in the human genome, with over 1 million copies accounting for 10% of the entire genome (Price, Eskin & Pevzner, 2004). From this fact, we deduce that we will result in rejection of the null hypothesis stating that students in the Biology 395 lab are in Hardy-Weinberg equilibrium for the Alu

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