Table 1. Single nucleotide polymorphisms (SNPs), primers, PCR conditions, and results of SNP detection |
gene |
SNP |
|
source |
position in gene |
SNP ID (1) |
description (2) |
nucleotide |
hetero-zygosity (3) |
5' primer |
3' primer |
product size bp |
T° annealing |
CBFβ |
public databases |
intron 2 |
rs1559368 |
IVS2-790C>T |
Y |
no |
TCTATGCATGGAAACCAATTATGC |
TCAACAGATGCAACAATCTAAAACC |
271 |
59°C |
|
|
intron 3 |
rs1212500 |
IVS3-2497T>C |
R/R/Y |
no |
CAGTTTCTACAATCTTCCCACTCC |
CTCATGTTAAACAAGGTAGAGAAGACC |
411 |
62°C |
|
|
intron 3 |
rs1200874 |
IVS3-2479G>A |
R/R/Y |
no |
CAGTTTCTACAATCTTCCCACTCC |
CTCATGTTAAACAAGGTAGAGAAGACC |
411 |
62°C |
|
|
intron 4 |
rs1806435 |
IVS4+3488A>G |
Y/R |
no |
GTCAATCCAATCTGAATTTTCCTT |
ACTTTCTAGTGAAAAGCTTAGGATTCA |
354 |
62°C |
|
|
intron 4 |
rs882821 |
IVS4+3477C>T |
Y/R |
no |
GTCAATCCAATCTGAATTTTCCTT |
ACTTTCTAGTGAAAAGCTTAGGATTCA |
354 |
62°C |
|
|
3'-UTR |
rs1061253 |
|
R |
no |
GCAATCTGGTAGCTTAAGGCAAGT |
ACCATGCTGCTTCTGTCTGTCTT |
205 |
59°C |
|
|
telomeric |
rs1881465 |
|
Y/R |
yes |
TCCTCACCTCTTTCGTCCTCTC |
TCTGTAAAATGGAAATGGGAATAACA |
268 |
62°C |
|
|
telomeric |
rs1881466 |
|
Y/R |
no |
TCCTCACCTCTTTCGTCCTCTC |
TCTGTAAAATGGAAATGGGAATAACA |
268 |
62°C |
|
Celera database |
centromeric |
CV2847588 |
|
Y |
yes |
AGCAGGCAGGACTTTTGGTATCT |
GTGACGAGACCCTGATCCATTT |
350 |
59°C |
|
|
centromeric |
CV2847591 |
|
T/C/T |
no |
CGAGAGAGTGTTTGGAAAATTGC |
AGGCTTGATAGCTTCCCTAGTCC |
727 |
59°C |
|
|
centromeric |
CV2847592 |
|
T/C/T |
no |
CGAGAGAGTGTTTGGAAAATTGC |
AGGCTTGATAGCTTCCCTAGTCC |
727 |
59°C |
|
|
centromeric |
CV2847593 |
|
T/C/T |
no |
CGAGAGAGTGTTTGGAAAATTGC |
AGGCTTGATAGCTTCCCTAGTCC |
727 |
59°C |
|
|
intron 3 |
CV2847587 |
IVS3+1606T>A |
A |
no |
TGAATAGCATAACCTGCCACATTT |
TTTTCCAAGCAAACAAGCTAATACAC |
369 |
62°C |
|
|
intron 3 |
CV2847586 |
IVS3+2894A>G |
Y |
no |
AATCCTTGGACTTAAACCATTGAGA |
TGAGGGAAAGATACTGATTTCTACCA |
942 |
62°C |
|
|
intron 3 |
CV2847584 |
IVS3+10714A>G |
Y |
no |
GTATTGCTGTGCTTTCAGGACTCT |
TGATATGGGCAGATTTGTTTATTTG |
269 |
59°C |
|
|
intron 3 |
CV2847583 |
IVS3+11034C>T |
S/R |
no |
AAGTAATGAGCCATTTGGGAGAAC |
TGGCCAATACATTTAAGGAAAATAAAA |
648 |
62°C |
|
|
intron 3 |
CV2847582 |
IVS3+11105G>C |
S/R |
no |
AAGTAATGAGCCATTTGGGAGAAC |
TGGCCAATACATTTAAGGAAAATAAAA |
648 |
59°C |
|
|
intron 3 |
CV2847581 |
IVS3-13504A>T |
W |
no |
TCCTGATTGATGTATTTGTTCCCTT |
CGGACTTGACCCTAAGATTCTGTT |
530 |
59°C |
|
|
intron 3 |
CV2847580 |
IVS3-8106C>T |
R |
no |
CAGTGCTATTGTAGTGCTGGAATCT |
CGTATTAAGAAAACGTAAGAGGGTGTG |
288 |
59°C |
|
|
intron 3 |
CV2847552 |
IVS3-3133C>A |
K |
no |
TGTTTAATAACAATAACTGACTGCCAA |
AGTAGTGAAGGGGAATGACACAAA |
440 |
62°C |
|
|
intron 3 |
CV2847551 |
IVS3-3126C>A |
K |
no |
TGTTTAATAACAATAACTGACTGCCAA |
AGTAGTGAAGGGGAATGACACAAA |
440 |
62°C |
|
|
intron 3 |
CV2847550 |
IVS3-2188C>T |
R/R/Y |
no |
CAGTTTCTACAATCTTCCCACTCC |
CTCATGTTAAACAAGGTAGAGAAGACC |
411 |
62°C |
(1) for SNPs from public databases, ID refers to dbSNP NCBI SNP CLUSTER ID's available at http://www.ncbi.nlm.nih.gov/SNP/." |
(2) nomenclature system for sequence variations (den Dunnen JT, Antonarakis SE; Hum Genet. 2001 Jul;109(1):121-124)" |
(3) results of our study showing detection (yes) or absence (no) of polymorphism in any sample analysed; heterozygosity was detected in unaffected individual III-5 in family A only |