Establishment of MALDI TOF-MS Technique Platform for Detecting Cytochrome P4 5 0 Gene Polymorphism / 现代检验医学杂志

ABSTRACT

Objective To establish the MALDI-TOF-MS technique platform for detecting Cytochrome P450 gene polymor-phismfrom of patients.Methods Collected 53 EDTA anticoagulation peripheral blood samples from October 2013 to June 2014 in Peking Union Medical College Hospital.The whole genomic DNA was extracted from patients’peripheral blood. Used MALDI-TOF-MS to identify the SNP polymorphism of CYP2C9*2(rs1799853),CYP2C9*3(rs1057910),CYP2C19*2(rs4244285),CYP2C19*3(rs4986893),CYP2C19*4(rs28399504),CYP2C19*5(rs56337013)and CYP2C19*17 (rs12248560).To verify the above SNP polymorphism by Sanger sequencing method.Results The MALDI-TOF-MS could perform 53 samples on two cytochrome gene and 7 SNP locus simultaneously.In all the 53 patients,25 AG,6 AA and 22 GG genotypes were identified in CYP2C19*2(rs4244285),the allele frequency of A genotype was 34.9%.4 AG and 49 GG genotypes were identified in CYP2C19*3 (rs4986893),the allele frequency of A genotype was 3.8%.5 CA and 48 AA gen-otypes were identified in CYP2C9*3 (rs1057910),the allele frequency of C genotype was 4.7%.No mutation loci were i-dentified in CYP2C9*2 (rs1799853),CYP2C19*4 (rs28399504),CYP2C19*5 (rs56337013)and CYP2C19*17 (rs12248560).All the identification data were confirmed by Sanger sequencing.The coincidence rate was 100%.Conclusion The MALDI-TOF-MS technique platform for the cytochrome enzyme SNP was established.This platform has high throughput and accurate characteristics.It has important clinical application value for the treatment of personalized medicate.