Table 2.

Genes, Primers, and Mutations

Gene		PCR primers (5′ → 3′)	Minisequencing primer	Mutation ^,	References

↵(PPT) Palmitoyl protein thioesterase; (AGA) aspartylglucosaminidase; (FV) coagulation factor V; (LDLR) low density lipoprotein receptor; (OAT) ornithine δ-aminotransferase; (GCSP) glycine cleavage system P protein.
↵(B) A 5′ biotin residue; (T7) the T7 RNA promoter sequence; (N) a 5′ amino group, (T)_[15] 15 T residues included as a spacer. The forward (5′) PCR primer sequence is given above the corresponding sequence of the reverse (3′) primer.
↵The minisequencing reactions detect the nucleotide of the noncoding strand at the site of the INCL_Fin, AGU_Fin, FH_Hki, FH_Tku and GA₁mutations. For the FH_Hki and FH_NK mutations the first nucleotide of the deletion or the first nucleotide following the deletion is detected in the minisequencing reactions.
↵The FH_Hki mutation is a 9.5-kb deletion, and two forward primers were used to amplify fragments of similar size from the normal and the mutant alleles.

Minisequencing: A Specific Tool for DNA Analysis and Diagnostics on Oligonucleotide Arrays