title: PCR-based methods for CDA K27Q and A70T genotyping: genotypes and alleles distribution in a central Italy population.
abstract: Cytidine deaminase (CDA) is a pyrimidine salvage pathway enzyme that catalyzes the hydrolytic deamination of cytidine and deoxycytidine to their corresponding uracil nucleosides. CDA also catalyzes the inactivation of some chemotherapeutic nucleoside analogues such as cytosine arabinoside and gemcitabine. CDA 79A > C (K27Q, rs2072671) and 208G > A (A70T, rs60369023) were found to be associated either with clinical outcomes as well as with pharmacokinetics and toxicity of drugs administered to different subsets of patients. In this paper we reported two PCR-based methods for CDA 79A > C (K27Q) and 208G > A (A70T) genotyping and tested their feasibility using DNA extracted from whole blood as well as from buccal swabs. The aim of this study was also to assess the distribution of genotypic variants in a central Italy population. The allele frequencies were 56.3% (K*) and 43.7% (Q*) for K27Q and 100% (A*) and 0% (T*) for A70T. The genotype frequencies were 32.8% (K*/K*), 46.9% (K*/Q*) and 20.3% (Q*/Q*) for K27Q. The genotype frequencies did not deviate from Hardy-Weinberg equilibrium. The results were compared with those of other reported populations. They showed marked ethnic group differences.
authors: Department of Morphological Science and Comparative Biochemistry, University of Camerino, 62032, Camerino (MC), Italy.
authors: Francesco M
authors: FM
authors: Carpi
authors: Silvia
authors: S
authors: Vincenzetti
authors: Daniela
authors: D
authors: Micozzi
authors: Alberto
authors: A
authors: Vita
authors: Valerio
authors: V
authors: Napolioni
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D016022:Case-Control Studies; D003564:Cytidine Deaminase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D003564:Cytidine Deaminase