A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry

Table 3 Performance metrics of RFMP genotyping assay

Measured parameter	Result
Reactions^a	960
Call rate (%)^b	956/960 (99.6)
Failures attributable to
DNA purification	0
PCR	0
Restriction digestion	0
Desalting	2
MALDI-TOF MS	2
Average SNR^b	27
Repeatability (%)^c	575/576 (99.8)
Concordance with Sanger Sequencing (%)^d	948/950 (99.8)

a, total reactions involved determination of the 5 SNP markers in MTHFR gene in 192 subjects.
b, average of the ratio of maximum allele signal to maximum non-allele signal of the 5 SNP markers.
c, assessment was based on a new bundle of reactions corresponding to triplicate analysis of 2 SNPs in 96 samples.
d, the comparison includes 4 reactions that failed in the first experimental set-up and were repeated for the attributable steps.

ISSN: 1471-2164