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Minerva Medicolegale 2013 June;133(2):71-7


language: English

Simultaneous genotyping of CYP2C9*2,3, and VKORC1 polymorphisms in an Italian population sample using a new minisequencing multiplex single-base extension analysis

Fabbri M., Venturi M., Ferronato C., Pollicino R., Daniele M., Gaudio R. M., Avato F. M.

Laboratory of Forensic Genetics, Section of Legal Medicine, Department of Medical Sciences, University of Ferrara, Ferrara, Italy


Aim: Our work was carried out to determine the prevalence of relevant CYP2C9 and VKORC polymorphisms in a sample of Italian population, represented by 100 individuals living in Ferrara and under oral anticoagulant therapy at the Sant’Anna Hospital.
Methods: One hundred hospital-based patients who had been used for genetic studies were used as a control population in the present study. Genomic DNA was isolated using QIAamp DNA Mini Kit (Qiagen). For the SBE, we designed four different primers with their 3’ ends adjacent to the polymorphic sites. In order to separate the SBE probes by capillary electrophoresis, we constructed the SBE primers to be of different sizes by adding a homonucleotide t-tail (at the 5’ end of the primer) during the chemical synthesis. samples were analyzed using GeneMapper ID-X 1.1 software (Applied Biosystems).
Results: Among the 100 patients, the observed genotype frequency of CYP2C9, haplotype *1\*1 was the most prevalent (58%), haplotypes *2\*3 and CYP2C9 *3\*3 were the least prevalent (0.02%), while for VKORC1(C1173T) was 28, 46 and 26% for CC, CT and TT genotypes, respectively. Finally, the observed genotype frequency of VKORC1(G3673A) was 30, 46 and 24% for GG, GA and AA genotypes, respectively.
Conclusion: This study assessed the frequency of VKORC1-(1173) C>T, CYP2C9*2 and CYP2C9*3 variant polymorphisms in sample of Italian population, represented by 100 individuals living in Ferrara. To our knowledge, this is the one of the first study to assess the frequency of VKORC1-(1173) C>T alleles and genotypes among Italians. The present study identified the VKORC1-CC and CT genotypes as the most prevalent genotypes among the Italians and European populations. A significantly higher frequency among Africans and a significantly lower prevalence in Asians. As regards CYP2C9, we reported a frequency of 77%, 13% and 10% for allele *1, *2 and *3, respectively.

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