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Using a High Resolution Melt Curve Assay to Examine the Single Nucleotide Polymorphisms of the HFE Gene
Author(s) -
Ehrke Mariah Kay,
ZwieslerVollick Julie
Publication year - 2018
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.2018.32.1_supplement.532.15
Subject(s) - single nucleotide polymorphism , high resolution melt , snp , genotype , pharmacogenetics , genetics , allele , melting curve analysis , biology , gene , polymerase chain reaction
Pharmacogenetics is the study of how inherited genetic variations correspond to an individual's specific reaction to medication. Pharmacogenetic testing determines an individual's genotype. This is beneficial in the medical field because it informs doctors and patients about drug efficacy, drug dosage recommendations, and the risk of adverse side effects for their genotype. The purpose of this project is to determine how to use high resolution melting analysis to characterize the different alleles caused by single nucleotide polymorphisms (SNPs). The SNP being tested is in the HFE gene which codes for an iron‐sensing protein which also regulates iron uptake. This SNP has been shown to predict the effectiveness of treatment with Humira® (adalimumab) in patients with Crohn's disease. We are presently developing a protocol for high resolution melting analysis of this SNP using the Roche LightCycler 480. The high resolution melting analysis should be specific enough to differentiate between the different SNPs. We will verify our SNPs results with DNA sequencing. The results of this study will be presented. This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal .