SSCP CONDITIONS for IRBP (RBP3):

Exon

Primer

Primer

sequence

Temp

[MgCl2]

pH

DMSO

Enzyme

Digest

Size

(bp)

1A

1256

GCTTGCACACAGTCCAGGGA

58

1.0

8.4

10%

MspI

103,127,180(409)

1A

1257

TTGCAGCCAGGCAAGCAGTT

           

1B

1258

ACAAGTCCCAGCACTCACCA

56

1.0

8.4

10%

MspI

92,115,198 (405)

1B

1259

GGTCTGGCTGCTGGTGAGGA

           

1C

1260

GAAAGGTACGGTGCCGACAA

56

1.0

8.4

10%

MspI

102,125,143,200(569)

1C

1261

TGAGTCTTCGGCTGCAGCGT

           

1D

1262

CCACAGAAACTCCTTCTTGG

56

1.5

8.6

10%

Taq1

157,198(355)

1D

1263

ATAGGTGGTGAAGAGGTGCA

           

1E

1264

TCCTACTTCCAGGGCCCTGA

54

1.0

8.6

10%

MspI

77,127,201(427)

1E

1265

AGGCTTTGGTGGAACTCCAG

           

1F

1266

TGGACAAAGCCCAGGAAGTG

56

1.0

8.6

10%

PvuII

63,156,200(437)

1F

1267

ATACCAGCCGCACCAGCTGT

           

1G

1268

CTGAACTGGAGACAGTGAAG

52

1.0

8.6

10%

BstNI

100,127,165(404)

1G

1269

TGCTGCCCACCTGGTAGATG

           

1H

1270

GGAGGCGCACTCTCTGTGGG

54

1.0

8.6

10%

StyI

70,183,216 (470)

1H

1271

GGGACTGGGTTCAGCCAGGT

           

2

1272

CCTCCTGACACTGAGTAGGA

52

1.0

8.4

10%

AluI

61,80,120(242)

2

1273

TCCTGGCTAGGAAGCACTGA

           

3

1274

GAACAGGCTCTGCTTCCCAT

52

1.5

8.4

10%

None

194

3

1275

GAAAGGAGAAAGCTTCTCCA

           

4

1276

CCATCCTGAAGGGCCTTATG

54

1.0

8.6

10%

EcoO109

41,107,118,153(432)

4

1277

TGTCCCAGAGGTTCTGTCTG

           

 

Amplification Conditions for IRBP for sequencing(RBP3):

(Used internal primers to sequence exon 1, see below. Also, used 10X amp buffer from Applied Biosystems containing no MgCl2). Polymerization time for exon 1 was extended to 3 minutes because of size of fragment (35 cycles). 5M Betaine was substituted for DMSO.

Exon

Primer

Primer

Sequence

Temp

[MgCl2]

ul 5M Betaine /20ul rxn

Size

(bp)

1

3236

TGCAATGTACCTTCTGGGTC

58

2.0

7ul

3344

1

1271

GGGACTGGGTTCAGCCAGGT

58

2.0

7ul

 

2

1272

CCTCCTGACACTGAGTAGGA

54

2.0

7ul

242

2

1273

TCCTGGCTAGGAAGCACTGA

54

2.0

7ul

 

3

1274

GAACAGGCTCTGCTTCCCAT

54

2.0

7ul

194

3

1276

GAAAGGAGAAAGCTTCTCCA

54

2.0

7ul

 

4

1276

CCATCCTGAAGGGCCTTATG

54

2.0

7ul

432

4

1277

TGTCCCAGAGGTTCTGTCTG

54

2.0

7ul

 

For sequencing of exon 1, the above internal primers were used (see table for SSCP conditions) to cover the exon: 1257, 1258, 1259, 1260, 1261, 1262, 1263, 1264, 1265, 1266, 1267, 1268, 1269, and 1270. Also another forward internal primer, 1955 (CTGCACAGAGCAGGGCCACG) was used for exon 1 (fragment 1A).

 

 

Cold (non-radioactive) Amplification Conditions for RDH5

Exon

Primer

Primer

sequence

Temp

[MgCl2]

pH

DMSO

Size

(bp)

1

4677

TGGGAGCAGTCTCTTAAACAAA

58

1.5

8.4

10%

299

1

4678

CCAAGAGGTTTGCTGTGTGA

         

2A

2719

GGCCACAGTAAACTGGACAA

56

1.5

8.4

no

178

2A

3731

AGCCGGTGATGAAGACAAAG

         

2B

3732

TTACTCTGGGCAGTGCTGTG

60

1.0

8.6

10%

140

2B

3733

AGGACTCGGAAGCCTCTCTG

         

2C

3734

TTCTGGCACTGCAGCTGGAC

50

0.25

8.6

10%

207

2C

2718

TTCCTGGTGGTCTACCATAC

         

3A

2722

CCCCAGCATCCTTTTCATCT

54

0.5

8.6

no

210

3A

3735

GACGCTGGTGATGTTGATCA

         

3B

3736

TGAACACAATGGGTCCCATC

50

0.5

8.4

10%

202

3B

2723

TGTTAGTCCTGGAACCCAGG

         

4

2724

AAGAACCCAGCAACTTCGCT

58

1.0

8.4

10%

237

4

2725

TTCCCTTCATGTGCCCCTGT

         

5A

3737

CTGATTGCAACCACCTATGG

58

1.0

8.6

10%

166

5A

3738

AGAGCAGCTTGGCATCCCAA

         

5B

3739

TAACCAAGGTGAGCCGATGC

58

1.5

8.4

no

200

5B

3740

CAATCTCTTGCTGGAAGGCT

         

 

SSCP conditions for RDH5

Exon

Primer

Primer

sequence

Temp

[MgCl2]

pH

DMSO

Enzyme

Digest

Size

(bp)

1

4677

TGGGAGCAGTCTCTTAAACAAA

58

1.5

8.4

10%

 

299

1

4678

CCAAGAGGTTTGCTGTGTGA

           

2A

2719

GGCCACAGTAAACTGGACAA

56

0.5

8.4

10%

none

178

2A

3731

AGCCGGTGATGAAGACAAAG

           

2B

3732

TTACTCTGGGCAGTGCTGTG

60

1.0

8.4

10%

none

140

2B

3733

AGGACTCGGAAGCCTCTCTG

           

2C

3734

TTCTGGCACTGCAGCTGGAC

50

.25

8.6

10%

none

207

2C

2718

TTCCTGGTGGTCTACCATAC

           

3A

2722

CCCCAGCATCCTTTTCATCT

54

1.0

8.4

10%

none

210

3A

3735

GACGCTGGTGATGTTGATCA

           

3B

3736

TGAACACAATGGGTCCCATC

50

0.5

8.4

10%

none

202

3B

2723

TGTTAGTCCTGGAACCCAGG

           

4

2724

AAGAACCCAGCAACTTCGCT

58

1.5

8.4

no

none

237

4

2725

TTCCCTTCATGTGCCCCTGT

           

5A

3737

CTGATTGCAACCACCTATGG

58

1.0

8.4

no

none

166

5A

3738

AGAGCAGCTTGGCATCCCAA

           

5B

3739

TAACCAAGGTGAGCCGATGC

58

1.5

8.4

10%

none

200

5B

3740

CAATCTCTTGCTGGAAGGCT

           

 

Amplification Conditions for CRALBP (RLBP1):

Exon

Primer

Primer

sequence

Temp

[MgCl2]

pH

DMSO

Size

(bp)

1

4673

gggcagagaaaagagggaat

60

1.5

8.6

no

432

1

4674

atcttgggacgtggtctcc

         

2

4675

gcaggagagaaaacctggaa

60

1.5

8.6

no

352

2

4676

aggaaacgggaggaggaata

         

3

3532

TGAGATCCACAGTTCTGAGAC

58

1.0

8.6

no

 

3

3533

AGGAGAGCCCTGGAGGACA

         

4

3534

GGCTGATGCGGTTGGCTGTT

58

0.5

8.6

10%

 

4

3535

CCCCTCATGTTGCCTCCCTA

         

5

3536

CTCATCACCTGTGTGTCCTGCC

58

0.5

8.4

10%

 

5

3537

GAGAGCGGATAGCATCCTCATG

         

6

3538

CTTCTGAGTCCCACTAGGAGG

58

1.0

8.4

no

 

6

3539

CCAGTAGAGGCCAGGGTTGA

         

7

3540

CCTCAGGACCTCAAGCCTTA

58

0.5

8.4

10%

 

7

3541

CTGCAAGCACCATGAAAGGA

         

8

3542

AATGAGTGGGAGCCTCTGAG

58

1.0

8.6

10%

 

8

3543

CCCTCTTGTCTCATTGTCTGG

         

9

3544

CTCCTGCTCAGTTCTGTCTC

58

0.5

8.6

no

 

9

3545

AGTTCAGCTGGCAGGAGATG

         

 

Amplification Conditions for RDH8:

Exon

Primer

Primer

sequence

Temp

[MgCl2]

pH

DMSO

Enzyme

Digest?

Size

(bp)

1F

4598

atctgtgggagggggttag

54

2.0

8.6

-

-

240

1R

4599

acccggctgcctcctagtg

           

2F

4600

aaaggagctcagtgcctgtc

54

1.5

8.6

10%

-

247

2R

4601

agaccaggatggggcttagt

           

3F

4602

gagggactttaaggtaaccc

52

1.5

8.6

10%

-

250

3R

4603

ggatttccagggttgggt

           

4F

4604

caccctggaacccacaaag

54

2.0

8.6

-

-

207

4R

4605

ccccatcactggctccaag

           

5F

4606

tggggcatcagacttacact

54

1.5

8.6

10%

-

254

5R

4607

cacgtcttggggctctgg

           

6F

4608

gacgtggctcaggtatgttg

54

1.5

8.6

10%

EarI

328

6R

4609

ggtctggttgttcaggatgg