Screening of single nucleotide polymorphisms within HLA region related to hematopoietic stem cell transplantation using MassARRAY technology

Abstract: A growing number of studies showed that single nucleotide polymorphisms (SNPs) in the human leukocyte antigen (HLA)-related genes were associated with the outcome of hematopoietic stem cell transplantation (HSCT). Thus, other SNPs located nearby the classical HLA genes must be considered in HSCT. We evaluated the clinical feasibility of MassARRAY by comparing to Sanger sequencing. The PCR amplicons with each one of the 17 loci that were related to the outcomes of HSCT published by our previous study were transferred onto a SpectroCHIP Array for genotyping by mass spectrometry. The sensitivity of MassARRAY was 100% (1,419/1,419) and the specificity was 98.9% (470/475), where the positive predictive value (PPV) was 99.6% (1,419/1,424) and the negative predictive value (NPV) was 98.9%. MassARRAY is high-throughput, which can accurately analyze multiple SNPs at the same time. Based on these properties, it could accelerate the time of matching the genotype between the graft and the recipient before transplantation.