Multiplex SNP genotyping by MALDI-TOF mass spectrometry: Frequencies of 56 immune response gene SNPs in human populations

作者：Stepanov V A^*; Trifonova E A

来源：Molecular Biology, 2013, 47(6): 852-862.

DOI：10.1134/S0026893313060149

• single nucleotide polymorphisms (SNPs)
• MALDI-TOF mass spectrometry
• multiplex genotyping
• real-time PCR
• genetic diversity
• human populations
• immune response genes

Single-nucleotide polymorphisms (SNPs) are the most common type of genetic polymorphisms. Despite the progress in sequencing and postgenomic technologies, targeted SNP genotyping continues to be in highest demand in the approach to human and medical genetics. In this work, we describe the application of multiple SNP genotyping by MALDI-TOF mass spectrometry for analysis of genetic diversity of immune response genes in human populations. It was shown that MALDI-TOF mass spectrometry is a rapid, accurate, and efficient method of medium-scale SNP genotyping. Allele frequencies of 56 SNPs in 41 genes implicated in the regulation of immune response were similar in four populations studied (Russians, Komi, Khanty, and Buryats). These populations had similar levels of genetic diversity and were clustered according to their geographic location. The cost efficiency of MALDI-TOF mass spectrometry was evaluated compared to real-time PCR technology.

• 出版日期2013-11
• 单位河北医科大学