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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.