Article
Copy number variation and incomplete linkage disequilibrium interfere with the HCP5 genotyping assay for abacavir hypersensitivity.
Genetic testing and molecular biomarkers - 1 Sept 2012
Melis Roberta, Lewis Tracy, Millson Alison, Lyon Elaine, McMillin Gwendolyn A, Slev Patricia R, Swensen Jeffrey
Abstract excerpt
Carriers of HLA-B*57:01 are at risk for Abacavir hypersensitivity reaction (ABC-HSR). In Caucasians, a SNP (rs2395029) in the HCP5 gene is reported to be in linkage disequilibrium (LD) with HLA-B*57:01. Genotyping the HCP5 SNP has increasingly been adopted as a simple method to screen for susceptibility to ABC-HSR. We genotyped both the HCP5 SNP and HLA-B*57:01 in a set of 1888 samples and found a good...
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