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Table 3 Methods of mutation analysis

From: Glucocerebrosidase Mutations in Gaucher Disease

cDNA Number

Substitution

Sense Primer

Antisense Primer

Rapid Detection Method

ASOH Primers

203

C→Del

1361-GCCACCACTACGCCCAGCTA-1380

1914-TAAGGGTATCAGTACCCAGC-1895

ASOH

1695-CCTTTGA C CCCCCGACCT-1702 1695-CCTTTGACCCCCGACCT1701

644

C→A

3389-CTGATTCACCGAGCCCTGCA-3408

3504-TTGAGTGACCCCTTCCCATT-3485

−PflMI

661

C→A

3389-CTGATTCACCGAGCCCTGCA-3408

3504-TTGAGTGACCCCTTCCCATT-3485

−HphI

721

G→A

3052-CATCATCCGGGTACCCATGG-3071

3916-GCGCCTATAATCCCAGCT-3899

−NciI

887

G→A

3465-TCAAGACCAATGGAGCGGTG-3484

4259-CTAGGTCAGGGCAATGAAG-4240

—BsmAI

970

C→T

4063-TCTGGTCCACTTTCTTGGCC-4082

4340-CCCAGTGGGGCAGCAGCATG-4321

(+NsiI)

1249

T→G

5183-CAAGGTCCAGGATCAGTTGC-5202

6487-TTTAGCACGACCACAACAGC-6468

ASOH

5854-TGTGGTCGGCTGGACCG-5870 5854-TGTGGTCGGCGGGACCG-5870

1255

G→A

5797-CCAGTGTTGAGCCTTTGTCT-5816

5892-GGGTTC AGGGCCAGGTTCC A-5873

(+XcmI)

 
  1. Underlining indicates that the nucleotide is mismatched to the normal sequence to produce a restriction site for the enzyme that is enclosed in parentheses.