AJHG Hans Eiberg

Table 1 suppl

SNP information and PCR primers for linkage and association analysis

dbSNP name /

Gene position

/ Forward primer / Reverse primer / PCR fragment length / Restriction enzyme digest
rs47782413 / OCA2, intron 1 / CGTGGCTTCCAATTTTTCAT / GCTGCCTAGGACTCGAGAGG / 229 / MfeI
rs40746581 / OCA2, intron 1 / AAGCCCCAAAGTAGGACAGC / GGTCTGCAGCATCATTCTTG / 491 / AvaII
rs47781373 / OCA2, intron 1 / AAGCCCCAAAGTAGGACAGC / GGTCTGCAGCATCATTCTTG / 491 / sequencing
rs18004012 / OCA2, exon 8; A305G / TTGTTCCATTTGCACTCTGG / GAGCCATCAAAAGAGGGACA / 167 / MspI
rs18004073 / OCA2, exon 13; Q419R / TGAAAGGCTGCCTCTGTTCT / TATGGTCACAGGCGTGAAGA / 192 / AvaII
D15S15331 / OCA2, intron 18 / CTTGGCAACATCCCTGTATCA / TGAATGCCATTATTTCATTCCTT / 147;(GT)n
rs9169772 / HERC2, intron 12 / TGTGTCCAGGTGTTTTCCAA / GGAACAGTGGTGTGGGATTT / 230 / AccI
rs116317972 / HERC2, intron 16 / CCCTTTTGTGGTGGACATCT / CTAAAACCCATGCCCTTCAA / 245 / sequencing
rs22402032 / HERC2, intron 20 / TGTTTGAAATGCAGCTTTGG / CACTAATGTGCGCCTATGGA / 213 / DdeI
rs106802801 / HERC2, intron 23 / ATGACACCGCACTCC / GATTTGCCATTTCTACTGA / 283;(CA)n
rs80286892 / HERC2, intron 23 / CACGGTGATTGTGCTGCTAC / AAAATGCGCACAAAACTTGA / 249 / NlaIII
rs39402722 / HERC2, intron 35 / AAAAATTCCCCCAGTTTTGC / CAAGGAAGGGACAGGAGTTG / 134 / sequencing
rs22382891,2 / HERC2, intron 44 / AGTATGTGGGTTTGGTTCTTAATC / GGTCTGCTGTCACTGCTCATT / 224 / MspI
rs71708522 / HERC2, intron 56 / TGCCTGCCCTATTGAGAAAC / ACTGTCCACTTCCCAAACCA / 154 / Tsp509I
rs7980822 / HERC2, intron 70 / CATCTGACTTGGCTGCACAC / ACAAGCATCTCAGACTGACCACT / 223 / Bsp1280I
rs116362322 / HERC2, intron 78 / GTTCTGCATGAGAGCCATGA / TTGCACGTGCTAAGAACCAC / 452 / AseI
rs39355912 / HERC2, intron 83 / TAGTGGGCCCAGTGTAATCA / GTTCCTTGCTGGCTGAGGTA / 201 / RsaI
rs129138322 / HERC2, intron 86 / TGATAGCGTGCAGAACTTGAgA / TAATTCAAAATGCCCCCAAG / 189 / BsmAI
rs71838772 / HERC2, intron 86 / GCCAGTTTCATTTGAGCATTcA / CCCCACCACTGGTAGTTTTC / 226 / BstZ17I
rs125935292 / HERC2, intron 90 / CACACATCACCCTGGACAAC / GACCCACAGCAGACACGATA / 648 / StuI
rs11290381,2 / HERC2, exon 93 / CAGCAGCGACGATTCAGATA / ATCACGGCCAGTCAGTCTCT / 231 / HaeII
rs30545371 / APBA2, intron 2 / AACTTCAAAGGCCCTGTCTG / AGAAGATGAAGCGGGGAGAT / 222; (AC)n
rs106023311 / APBA2, intron 2 / CATTTGAAAAGCCACCTTCC / TCCAAACCCAAGCTCTCAGT / 236; (GT)n
rs22794832 / APBA2, intron 11 / CCTGCAGTGGCTAATCTTCC / CTGGGCCTTAGACATCAAGC / 248 / MspA1 I

(1) Markers used for the linkage analysis

(2) Markers used for the association studies for blue eye color

(3) Markers used for the association studies between BEY1 and BEY2.

Table 2 suppl

Primer information for PCR amplification and sequencing of DNA variations for blue eye color

Forward primer / Reverse primer / Size in bp
HERC2
Exon 21 / CTACTTTCTTCGCTGCCGTG / CAGCAGAGCTTTCCATCCTTG / 1457
Exon 26 / CAGTTGCTGCCTGCTTTACT / CATGAGCCACTGCCTGtCT / 760
Exon 30** / TTAAGTTCTTTGCCCCGTTG / TTGGAAAAACAAGCGAGATT / 243
Exon 33* / TTGCAGTTGGAGAGAGCAGA / GGACACTGCCAGACTTCTGTTA / 226
Exon 39 / CCCGTAGTCCCAGCTATgTG / TAAAGGCCCCTGACTCTGAA / 583
Exon 44* / TGAATCCTGCGTCCTATCAA / TTTGTCTACTTTCTACTGCCCTTC / 451
Exon 45* / GTGGTGTTCGCAGTTGAAAA / AGTCCTGACGAGCCTCTTTG / 529
Exon 46-47* / CTTCCCAAATCTCCCAGGAC / TAGAGCGCTAGACGGACAGC / 594
Exon 51-52* / CAATGTAGTATGACATGGCTAGGTG / ACCGTCACTTCCGTCTCACT / 593
Exon 54-55 / CTGCCAGGTTGAGGGAAAAT / AGAAATGGCCAAGTCACCTC / 497
Exon 59 / CGTTCTCTGAGACACTGTCAGC / GACACCAATTAGGGCTTTGG / 404
Exon 72 / TTGTGTCACTGTGCACTTCG / CACTCCAACACAGCAGAAGG / 408
Exon 76-77 / CCcTCATCCTGGAATAGGAG / CACGATCGACATTACTGCTTG / 804
Exon 78 / GTTCTGCATGAGAGCCATGA / TTGCACGTGCTAAGAACCAC / 452
Exon 85 / AGCAGCACAGTGAGGTTGTG / GAGGCA TTCCGTGAACATTT / 478
Intron 86 / GTTCATGTTCCCACCATCCT / GCAAGTCAAGGTGCACTCAA / 675
Silencer with
BamH1 cut-ends / ggatccGTTCATGTTCCCACCATCCT / GgatcCGCAAGTCAAGGTGCACTCAA / 676
+11
Exon 87 / GCTGAGGCACTCACTCACTG / GTGAGGAAGGAGGAGGCTGT / 629
Exon 88 / TTGGGCAGATGTGTGCTAAG / AACTCAAGAGCAGGCACAGG / 489
Exon 89 / CCTTCCTGTCCCACTGAGG / CCAGAGTTCACAGCCTGACC / 598
Intron 89 / AGGCTGTGAACTCTGGCCTA / TCATCTCCATCCCAGACTCC / 512
Exon 90 / GGAGTCTGGGATGGAGATGA / GCCAACAAAGAAAGCACACA / 541
Exon 91 / CTGTCGGCTGGACGAGAT / AAAGGTCTGGGGGCTCTG / 496
Exon 92 / CTTGCCCTGTGTGT TGACTG / CTGCAGGACTGTGGGTGAG / 499
Intron 92-b / TTGCTTTGGGTTCCAACTCT / GAATACCTGGGCAGCTTCAG / 745
Exon 93 / CTTCCCGGGATGACAATAGA / GGCTCAGGCTCTCATCTCAC / 543
Exon 93 3’UTR-end / CAAGGGTC TTCTCACCCGTA / TGGTTAAGAAAGCTCAGCCTACA / 537
OCA2-HERC2
rs10634097 / CTCAGAGCACAAACGCTCAG / CATGTGGGGTGTGAGAAGTG + 4 snp / 498; (GT)n
OCA2
Promoter with
cut ends / ggtaccTGTAACCTTGGCGTCCTAGC / AagCTTTCTCCAGGAGTGAGTTTAAGG / 514
+9
Promoter and
Exon 1 / TGTCTGTGCTGCAGGAGGG / GCTCCTCGCCTCCTTCCTC / 607
Exon 2 / GGTGCAAACGTTAGTCTCA / TGGAAACCCAATCTGTGT / 366
Exon 7 / GGACATGGGGTTTCTCCTGT / TGAGATGAAATGAGATTTCAC / 264
Exon 10 / CTTTCGTGTGTGCTAACTCC / ACATCTTTGAGCTGACATCC / 195

*PCR primers amplified more than one locus, ** A part of exon sequenced. Small letters representing Mitch match or cutends sequencies .

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