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Published on: September 25, 2018
A capillary electrophoresis method for genotyping the 9-bp exon 1 insertion/deletion in BDKRB2
Jasmine Talameh1, Anne Misher, Janelle Hoskins
1Institute for Pharmacogenomics & Individualized Therapy, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, 1100 Genetic Medicine Building, Campus Box Number 7361, Chapel Hill, NC 27599-7361, USA. jtalameh@unc.edu
Aim:
To develop and apply a novel genotyping method for the 9-bp exon 1 insertion/deletion polymorphism in BDKRB2.
Materials & Methods:
DNA from 718 patients with heart failure was extracted using standard methods and a region containing exon 1 of BDKRB2 was amplified with PCR. The PCR product was separated using the Qiagen QIAxcel® capillary electrophoresis system. The bp size of the PCR product was calculated and the genotypes determined using Qiagen BioCalculator® software.
Results:
Capillary electrophoresis accurately genotyped samples with >99% call rate and 700 s run time per row of a 96-well plate (i.e., less than 1 min per sample). The frequency of the deletion was 49% in the Caucasian patients (n = 441) and 45% in the African-American (n = 277).
Conclusion:
Capillary electrophoresis is a rapid, accurate and sensitive method for genotyping the 9-bp exon 1 insertion/deletion polymorphism in BDKRB2.

