Mass spectrometry (MS)-based genotyping enables multiplexed detection of single nucleotide polymorphisms (SNPs) and offers an alternative to fluorescence-based assays[1].
Allelic discrimination is based on single base extension (SBE), where a primer anneals immediately upstream of the SNP site and is extended by one chain-terminating, complementary nucleotide (Fig. 1). MALDI-TOF MS determines the mass of the resulting extension product, allowing precise identification of the sequence and thus SNP alleles.
Figure 1: Lack of 3′-OH group is required for chain termination properties.
While Acyclo-nucleoside-triphosphates (Acyclo-NTPs) (A) substitute a 2‐hydroxyethoxymethyl group for the ribose moiety, 2',3'-Dideoxynucleoside-5'-triphosphate (ddNTPs) (B) lack both the 2‘- and 3‘-OH groups. Both core structures prevent further chain extension after nucleotide incorporation.
| Products | Cat. No. | Amount | Price |
|---|---|---|---|
| Acylco-ATP | NU-538S | 50 µl (100 mM) | 148,50 € |
| NU-538L | 5 x 50 µl (100 mM) | 445,50 € | |
| NU-538-CSTM | Custom specific bulk amount | Request a Quote | |
| Acyclo-GTP | NU-540S | 50 µl (100 mM) | 148,50 € |
| NU-540L | 5 x 50 µl (100 mM) | 445,50 € | |
| NU-540-CSTM | Custom specific bulk amount | Request a Quote | |
| Acylco-CTP | NU-539S | 50 µl (100 mM) | 148,50 € |
| NU-539L | 5 x 50 µl (100 mM) | 445,50 € | |
| NU-539-CSTM | Custom specific bulk amount | Request a Quote | |
| Acyclo-5-Br-UTP | NU-541S | 50 µl (100 mM) | 148,50 € |
| NU-541L | 5 x 50 µl (100 mM) | 445,50 € | |
| NU-541-CSTM | Custom specific bulk amount | Request a Quote | |
| Biotin-11-ddGTP | NU-1618-BIOX | 25 µl (1 mM) | 397,90 € |
| NU-1618-BIOX-CSTM | Custom specific bulk amount | Request a Quote | |
| Biotin-11-ddATP | NU-1612-BIOX | 25 µl (1 mM) | 350,70 € |
| NU-1612-BIOX-CSTM | Custom specific bulk amount | Request a Quote | |
| Biotin-11-ddCTP | NU-850-BIOX-S | 25 µl (1 mM) | 89,70 € |
| NU-850-BIOX-L | 5 x 25 µl (1 mM) | 328,50 € | |
| NU-850-BIOX-CSTM | Custom specific bulk amount | Request a Quote | |
| Biotin-11-ddUTP | NU-1619-BIOX-S | 25 µl (1 mM) | 85,70 € |
| NU-1619-BIOX-L | 5 x 25 µl (1 mM) | 313,70 € | |
| NU-1619-BIOX-CSTM | Custom specific bulk amount | Request a Quote | |
| Biotin-16-ddUTP | NU-253-BIO16-S | 25 µl (1 mM) | 95,00 € |
| NU-253-BIO16-L | 5 x 25 µl (1 mM) | 347,20 € | |
| NU-253-BIO16-CSTM | Custom specific bulk amount | Request a Quote |
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1] Ross et al. (1998) High level multiplex genotyping by MALDI-TOF mass spectrometry. Nature Biotechnology 16:1347.
[2] Kim et al. (2002) Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry. Nucleic Acids Res. 15(30):e85.
[3] Smith et al. (2003) Digital genotyping using molecular affinity and mass spectrometry. Nature Reviews Genetics 4:1001.
[4] Mengel-Jørgensen et al. (2004) Multiplex Y chromosome SNP genotyping using MALDI-TOF mass spectrometry. International Congress Series 1261:15.
[5] Di Degusto et al. (2003) Single base extension (SBE) with proofreading polymerases and phosphorothioate primers:improved fidelity in single-substrate assays. Nucleic Acids Res. 31(3):e7.
[6] Gardener et al. (2019) Therminator DNA Polymerase: Modified Nucleotides and Unnatural Substrates. Front. Mol. Biosci. 6(28):doi:10.3389/fmolb.2019.00028.
[7] Brookes (1999) The essence of SNPs. Gene 234 (2):177.
[8] Ward et al. (2012) Interpreting noncoding genetic variation in complex traits and human disease. Nat. Rev. Genet. 13(8):493.
[9] Collins et al. (1997) Variations on a theme: cataloging human DNA sequence variation. Science 278(5343):1580.
[10] Johnson et al. (2001) Pharmacogenomics: impact of polymorphisms on drug response. Annu. Rev. Pharmacol. Toxicol. 41:539.
