Table 1.
SNP genotyping results
| SNP | Chromo- some | Sequence (5′ to 3′) | MALDI-TOF MS genotyping result |
|---|---|---|---|
| Factor V Leiden* | 1 | CCT[C/T]GCC | [C] |
| STS WI-867† | 7 | TCC[A/G]TTT | [G] |
| STS WI-921† | 11 | TCT[A/G]GGG | [A/G] |
| STS WI-1126† | 7 | TTT[T/C]GGA | [T] |
| STS WI-1325† | 20 | TCT[C/T]ACC | [T] |
| STS WI-1803† | 4 | GAT[A/G]AGT | [A/G] |
| STS WI-2026† | 6 | ATC[A/G]TTT | [A] |
| STS WI-2032† | 9 | TCA[G/C]CTT | [G/C] |
| STS WI-2529† | 10 | CAA[T/C]TCT | [T] |
| WIAF-1432‡ | 18 | TTG[C/T]AGG | [T] |
| WIAF-123‡ | 16 | TTT[A/T]ACA | [T] |
| WIAF-2057‡ | 22 | ATT[G/C]AAT | [G/C] |
The two possible polymorphic nucleotides are indicated in brackets within each SNP target sequence. A single nucleotide in the results column indicates a homozygote and two nucleotides indicate a heterozygote.
*
This is a single-nucleotide substitution mutation (26).
†
These SNPs have been previously described (27). STS, sequence-tagged site.
‡
These SNPs are from the Whitehead Institute for Biomedical Research/MIT Center for Genome Research human SNP database available on-line at http://www.genome.wi.mit.edu/SNP/human/index.html.