Table 2.
Base-specific cleavage results
|
Public SNPsa
|
||||
---|---|---|---|---|---|
Amplicon | # | Type | Positionb | Allele freq | SNP ID |
Amplicon 1 | 1 | C to T | 11594/11597/11598 | 0.93/0.07 | rs5883 |
2 | T to G | 11690 | 0.85/0.15c | ||
3 | G to A | 11693/11694/11695 | 0.86/0.14c | rs289714 | |
4 | G to A | 11854/11855 | 0.47/0.53 | rs158477 | |
Amplicon 2 | 5 | C to T | 11967 | 0.99/0.01 | |
6 | A to C | 11978 | 0.46/0.54 | rs158478 | |
7 | G to A | 12292 | 0.46/0.54 | rs158479 | |
Amplicon 3 | 8 | G to A | 12469/12471 | 0.13/0.87 | rs158480 |
9 | A to G | 12530/12531 | 0.13/0.87 | rs158617 | |
10 | A to T | 12752 | 0.12/0.88 | rs289715 | |
Amplicon 4 | T to G | 13439 | rs2303789d | ||
11 | A to G | 13490 | 0.995/0.005 | ||
Amplicon 5 | 12 | T to A | 13620 | 0.29/0.71 | rs289716 |
13 | G to A | 13632 | 0.63/0.37 | rs289717 | |
14 | T to A | 14013 | 0.99/0.01c | rs736274 | |
Amplicon 6 | 15 | C to T | 14176 | 0.30/0.70 | rs289718 |
T to C | 14185 | rs289719d | |||
16 | T to C | 14229 | 0.67/0.33 | rs2033254 | |
17 | G to A | 14361 | 0.995/0.005 | ||
18 | C to T | 14476 | 0.89/0.11 | ||
Amplicon 7 | 19 | T to G | 14626 | 0.92/0.08c | |
20 | C to T | 14730 | 0.98/0.02 | ||
Amplicon 8 | 21 | A to G | 15072 | 0.68/0.32c | |
22 | T to G | 15192 | 0.10/0.90 | rs1968905 | |
23 | T to G | 15238 | 0.96/0.04 | ||
Amplicon 9 | 24 | G to A | 15429/15430 | 0.63/0.37 | |
25 | G to A | 15696 | 0.63/0.37 | rs291044 | |
Amplicon 10 | 26 | C to T | 16128/16131/16132 | 0.99/0.01 | |
27 | C to T | 16177/16179/16180 | 0.99/0.01 | rs891144 | |
G to A | 16256 | rs5881d |
The reader is referred to http://www.ncbi.nlm.nih.gov/ for information on the public SNPs
Positional ambiguity was resolved by the MassEXTEND assay; the SNP position is underlined
The marked allele frequencies were calculated using the Hardy-Weinberg equation; in these cases, heterozygotes could not be distinguished from either wild-type or mutant homozygous samples
Three public SNPs (italics) were not identified using the base-specific cleavage assay. SNPs rs2303789 (found in an Asian population) and rs5881 (allele frequency = 0.025) are absent from our sample collection. rs289719 was missed because of its genetic linkage with and close proximity to rs289718; concurrence of the two SNPs is mass-neutral