Table 1

PCR amplicons and primers to detect sequence variation in the AMPD1 locus: primers for exons, upstream, downstream, and introns

RegionPrimer NamePrimer sequences (5′ to 3′)Length(bp)
Ex, exon; (FAM)-, ; (HEX)-, ; (ROX)-, ; (NED)-, Up, upstream; Pro, promoter; Int, intron; Fl, flanking; STR, short tandem repeat.
Ex1 and upstreampro 1 (+)(FAM)-AGTAAAGACTGAAAGCTTCAC282
int 1 (-)(HEX)-CAACTGAGCTCTCCAAACAC
Ex 2int 1 (+)(ROX)-GCAATCTACATGTGTCTACC197
int 2 (-)(NED)-TTCTGAATTAAGGAATAGTCTC
Ex 3int 2 (+)(FAM)-AGCAGAAACTCTCAGCTGAC291
int 3 (-)(HEX)-CTCCTTAGGTGCCAATATAC
Ex 4int 3 (+)(ROX)-TCACAATGAAACGCCTGATG261
int 4 (-)(NED)-CTGGTTGCTAAGTCTGAGTG
Ex 5int 4 (+)(FAM)-AATGGGCTGCGATACACAG369
int 5 (-)(HEX)-CTGGATTACTTATAATCTAGAG
Ex 6int 5 (+)(ROX)-CAAGCTAATGAGATGTTGTAG371
int 6 (-)(NED)-GTTTAGGTCTTGTAGTACTAG
Ex 7int 6 (+)(FAM)-CTATGAATGATAAAGGTCCTG262
int 7 (-)(HEX)-TGCCCAGGAATTACCCCTG
Ex 8int 7 (+)(ROX)-CAGCACCATATCCTCTAAAC315
int 8 (-)(NED)-TTCTGAGTATTAGAGTGAAAC
Ex 9int 8 (+)(FAM)-AGACCCCAGTTCTGCTTGAC267
int 9 (-)(HEX)-TCAAGAACCATGCCAGATAC
Ex 10int 9 (+)(NED)-GAGTTAGAAAGGGAATCTCC296
int 10 (-)(NED)-GATGAGACAAGGGCAGGC
Ex 11int 10 (+)(FAM)-ATTCTCTGGTTCCCTCATAC285
int 11 (-)(HEX)-GCACCAAGAATTAGTCATGAC
Ex 12int 11 (+)(ROX)-TTGGTCTGTGCCTTTGGAC305
int 12 (-)(NED)-AAAGAGCTGTGTCAAATAGAC
Ex 13int 12 (+)(FAM)-GCTTACTTCCTTCCAGAGTG261
int 13 (-)(HEX)-TAGCTCCAATGTAAAAGTTAAG
Ex 14int 13 (+)(ROX)-CATGAGATTGTAGTGTTTCTAG304
int 14 (-)(NED)-GACGGGAAACAACAGTCCAG
Ex 15int 14 (+)(FAM)-TTTCAGGCAGGATGCATATTA221
int 15 (-)(HEX)-CAGACCCTATACTCAGAAGG
Ex 16int 15 (+)(ROX)-ATTATTGTCTATACCAGGGTG306
int 16 (-)(NED)-AGTAGGGACTCAATAACAGG
Up1us 31 (+)CCATAACTTCAGATGAGCAC326
us 31 (-)ACAGAACTGAATGCTTACTG
Up2us 11 (+)AAAGAACTTTTGGAGACATCC340
us 11 (-)TTACATTTTTACCTGGATTTCC
Pro4pro4 (+)GCAGCAACTATCAAATATTTAG427
pro4 (-)CCCAAATCTCACGCTCTTTC
Pro3pro3 (+)CAGTCATAACTAAGACTGTGTG417
pro3 (-)GCACACACGCTCAGGAATG
Pro2pro2 (+)CTGCTAAGTCAGACACATTAC349
pro2 (-)GCTTGAGGCATTTGATAGTG
Int2int 2 (+)TCTGCCTCCTGGGTTCAAG371
int 2 (-)AGGAAAGACAAGGTTGTAGG
Int4int 4_10kbB+CCAGACGCTTTTGGCCAAG413
int 4_10kbB-AAACCACTCGGTCAGTGAG
Int6int 6 (+) LDAGCCTTTGGAGCCCACTAC423
int 7 (-) LDTAAAATCCACTGAACCTGTAG
3′Flds 60 (+)GCGGATGGTAACAATAACAAC331
ds 60 (-)GAAATAGTTTTTTATAGACCTC
Int2STRint 1 (+)(ROX)-GCAATCTACATGTGTCTACC437–457
int 2 STR(-)CCTGGGTGACCATCCATC
Int9STRint 8 (+)(FAM)-AGACCCCAGTTCTGCTTGAC379–406
int 9 STR (-)TGTTTGGCCCCAGGGATC
3′STRSTR 1D (+)(HEX)-TGAGTTTGCCAGGCAGAAAC222–236
STR 1D (-)AACTTAAGACTCACTACAGAC