A capillary electrophoresis method for genotyping the 9-bp exon 1 insertion/deletion in BDKRB2

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. Original submitted 21 September 2011; Revision submitted 21 November 2011