Fabry Disease: Twenty Novel α-Galactosidase A Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes

Table 1 Oligonucleotide primers used for PCR amplification and sequencing of the α-Gal A gene

Amplicon	Exon(s) Amplified	Primer Sequence (5′ → 3′)	Orientation	Genomic Sequence*
1	Promoter and exon 1	AAGCACGCATTTGCCTAGAT	Forward	330–349
		TTTAGGGCTAGTCCTGATTC	Reverse	1526–1545
2	Exon 2	GCATTTTAGGTTGTTCAGTTG	Forward	4715–4735
		ACAGAAGTGCTTACAGTCCTC	Reverse	5301–5321
3	Exons 3 and 4	CCTAGTTTGAACTAGCTCAG	Forward	7059–7078
		GACAGGACATGAATGGTGAA	Reverse	8623–8642
4	Exons 5–7	CTTTAAGGGATTTCAAGTTA	Forward	9930–9949
		TTGAGATGGAATCTTTGTTG	Reverse	11588–11607

ISSN: 1528-3658