Table 1.

Methods for SNP Analysis

MethodAllele discrimination byFormatInstrumentationReferences
MASDAASOformat 1 array + gelnone Shuber et al. (1997)
Whitehead–

Affymetrix SNP microarray
ASOformat 2 arrayarray scannerD.G. Wang et al. (pers. comm.)
TaqManASOhomogeneous closed tube[i] TaqMan instrument Livak et al. (1995)
Molecular beaconsASOhomogeneous closed tube[i] TaqMan instrument Tyagi et al. (1998)
MADGERestriction cleavagegel none Day and Humphries (1994)
Allele-specific PCR3′ matched/mismatched primergel none Liu et al. (1997)
OLAligationsolid-phase microtiter readoutfluorospectrophotometer Samiotaki et al. (1994); Tobe et al. (1996)
OLA multiplex gelligationgelautomated sequencer Grossman et al. (1994); Day et al. (1995)
DOLligationhomogeneous closed tube[i] TaqMan instrument Chen et al. (1998)
Solid-phase minisequencingnucleotide incorporationsolid-phase microtiter readoutscinitillation counter Syvänen et al. (1993)
Minisequencing on arraynucleotide incorporationformat 2 arrayPhosphorImager Shumaker et al. (1996); Pastinen et al. (1997)
Minisequencing multiplex gelnucleotide incorporationsolid phase + gelautomated sequencer Pastinen et al. (1996)
Minisequencing with FRETnucleotide incorporationhomogeneous reagent addition[ii] TaqMan instrument Chen et al. (1997)
Pyrominisequencingnucleotide incorporationhomogenous reagent addition[ii] luminometerP. Nyrén and M. Ronaghi (pers. comm.)

[i] Reagents for amplification and allele distinction are mixed together at the start, and results are recorded without opening the reaction vessel.

[ii] After amplification, detection reagents are added to the reaction vessel, but no separations are required before recording the results.