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. 2010 Dec;31(12):E1894–E1915. doi: 10.1002/humu.21367

Supp. Table S2.

Oligonucleotide primers used for PCR amplification of the novel missense mutations and polymorphisms

Location Forward (5′>3′)# Reverse (5′>3′)# Annealing Temperatur e (°C) PCR product size (bp) Restriction enzyme
Mutation§

Ex. 9 c.953C>G TTGGGTGATCCTTTTATTGTCA CAACCCGCATCTCCCATGA* 58 195 Mnl I

Ex. 9 c.967G>A AGTTGCCTTATGGGAGCTGC* CACTGGCAAATCTTGCTTAAAA 60 229 Pst I

Ex. 10 c.1151T>C GTTTGGATGAATCAGACTCAAAT ACAAAAGTTTACCATGGTTCCA* 56 246 Bsr I

Ex. 13 c.1468T>A TTCTGTCCACATGAGATGAGC CCAACATTGAAATCCACCTTAT* 59 215 Bstx I

Polymorphism§

UTR 5′ c.42GC GCTTCCTGGCAACGCCGATC* ACTCATGGCCCTCTTCCTTT 62 309 Taq I

Ex. 1 c.61GC GTCAGCATCAGCGGCCTCCT ACTCATGGCCCTCTTCCTTT 62 415 Sma I

Ex. 1 c.75CA GTCAGCATCAGCGGCCTCCT ACTCATGGCCCTCTTCCTTT 62 415 Hga I

Intr. 1 c.195+34GT GTCAGCATCAGCGGCCTCCT ACTCATGGCCCTCTTCCTTT 62 415 Bbv I

Intr. 7 c.752+56TC ATCTTGGTCATAAATTCAACAGC GAGAATGTAATCAAATGGGGAGA 60 305 Taq I

Legend: Ex=exon, Intr=intron;

§

GALC gene GenBank-EM BL accession no. NM_000153.2 and no. NC_000014.8

*

primer modified so asto introduce a new restriction enzyme cleavage site according to Schwartz et al. (1991)