title: Rapid allele-specific PCR method for CDA 79A>C (K27Q) genotyping: a useful pharmacogenetic tool and world-wide polymorphism distribution.
abstract: BACKGROUND
  The CDA 79A>C (K27Q, rs2072671) functional SNP has recently shown a crucial role in the pharmacogenetics of cytidine-based anticancer drugs widely administered to different subsets of patients. Current gold standard in screening for the CDA rs2072671 is the sequence-based genotyping method. Here we developed a novel, rapid Allele-Specific PCR method for CDA rs2072671 genotyping.
  
  
  METHODS
  DNA was extracted from 324 healthy individuals from two different populations (Italian and Han Chinese). CDA rs2072671 genotyping was performed by Allele-Specific PCR. Sequencing was performed to validate the test results. Results obtained from population screening were compared to that already available in HapMap and in the literature.
  
  
  RESULTS
  Samples analyzed were successfully genotyped and the results were confirmed by sequencing. Genotype distribution does not differ significantly from that previously reported for each relative ethnic group. Also, the world-wide distribution of the CDA rs2072671 SNP is reported. A striking difference is present among the main ethnicities (p=1.715×10(-77)), with CDA*27Q allele showing the lowest frequency in African group (9.7%) and the highest in Caucasians (35.9%).
  
  
  CONCLUSIONS
  This Allele-Specific PCR method is a useful tool in pharmacogenetics research and a valid and reliable alternative for CDA rs2072671 screening where sequencing or Real-Time PCR is not available.
authors: School of Biosciences and Biotechnologies, University of Camerino, Camerino, Italy.
authors: Francesco M
authors: FM
authors: Carpi
authors: Jialin
authors: J
authors: Xu
authors: Silvia
authors: S
authors: Vincenzetti
authors: Alberto
authors: A
authors: Vita
authors: Wei-Min
authors: WM
authors: Cai
authors: Valerio
authors: V
authors: Napolioni
mesh_terms: D000483:Alleles; D001483:Base Sequence; D017931:DNA Primers; D005838:Genotype; D006801:Humans; D010597:Pharmacogenetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers