Sickle Cell Anemia: Functional Validation of Genetic Mutations and Human Disease

This video reviews the genetic cause for sickle cell anemia. The identification of single nucleotide polymorphisms (SNP) that have functional effects is important to understanding disease and susceptibility. Functional validation of potential mutations that have an impact can verify if there’s a change to both a gene region or a control region that has an impact.

Topics

  • sickle cell anemia
  • hereditary
  • hemoglobin
  • single base pair mutation
  • coding region
  • thymine
  • adenine
  • hydrophilic amino acid
  • glutamate
  • hydrophobic amino acid
  • valine
  • sickle shape
  • single nucleotide polymorphism
  • SNPs
  • SNP
  • disease susceptibility
  • genome-wide
  • gene