title: [Multiplex genotyping of single nucleotide polymorphisms by MALDI-TOF mass-spectrometry: ferequencies of 56 SNP in immune response genes in human populations].
abstract: Single nucleotide polymorphism (SNP) are the most common type of genetic polymorphisms. Despite the progress in sequencing and postgenomic technologies, point genotyping of SNPs remains the most demanded approach in human and medical genetics. In this paper, the experience in the application of multiple SNP genotyping using MALDI-TOF mass-spectrometry for the analysis of genetic diversity of immune response genes in human populations has been described. It is demonstrated that MALDI-TOF mass-spectrometry is rapid, accurate and efficient method for medium-scale SNP genotyping. In four populations (Russian, Komi, Khant, and Buryat) the similar spectrum of allelic frequencies for 56 SNPs in 41 genes implicated in the regulation of immune response was found. Populations under study have the similar level of genetic diversity and are clustered according their geographic location. Economic effectiveness of MALDI-TOF mass-spectrometry in comparison with a real time PCR technology is estimated.
authors.forename: V A
authors.initials: VA
authors.lastname: Stepanov
authors.forename: E A
authors.initials: EA
authors.lastname: Trifonova
mesh_terms: D005006:Ethnicity; D005802:Genes, MHC Class II; D014644:Genetic Variation; D005828:Genetics, Population; D005838:Genotype; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*