Table 1. Primers for the RS1 mutation analysis.

Gene	Usage	Exon	Primer (5′→3′)
RS1	PCR and sequencing	1	F: GGTTAACTTGATGGGGCTCA
			R: CCCATCCTGTTTTCTGTTGG
		2	F: TTCTTCCAGAAGGGGTGTTG
			R: AAGCGATTCTCTTGCCTCAG
		3	F: TCAATTTGGCCATTGTAGCA
			R: GGAGAAAACCCGCATTAACA
		4	F: TGAACCGTTGAAGACACAGC
			R: AGTGCAGTGGTGTGATCTCG
		5	F: TTTCTTGGGAGGTGGAGATG
			R: GCAGATGATCCACTGTGCTG
		6	F: GTTCCAGATGTCCCAAGCAT
			R: TGCGAAATATAGCCCTGTCC
RS1	Gene dosage	1	F: GGGAAGATGTCACGCAAGAT
			R: AACTGGAAAGCCATCCACAC
		2	F: GCCACATTGGGATTATCGTC
			R: TGTTGGGATTACAGGCATGA
		3	F: AACCACAGTTGCCTTTGACC
			R: TGTTCCCAATGACTGTTCCA
		4	F: CAGTCACCTGGTGCTTGTTG
			R: CGAAGAATACCAGCCCACAT
		5	F: TTTCTTGGGAGGTGGAGATG
			R: TGTCCTGGAACTTGGAGAGC
		6	F: GTTCCAGATGTCCCAAGCAT
			R: GGTCCGAGTTGCCATAGAAG
HBB	Gene dosage	2	F: TTGGACCCAGAGGTTCTTTG
			R: GAGCCAGGCCATCACTAAAG
B2M	Gene dosage	2	F: CTCACGTCATCCAGCAGAGA
			R: AGTGGGGGTGAATTCAGTGT

Forward and reverse primers sequences were used to amplify the RS1, HBB, and B2M genes. Forward primers for gene dosage analysis were labeled with 6-FAM. Annealing temperature was 55 °C, with exception of RS1 primers for amplification of exon 2 (60 °C), exon 4 (60 °C), and exon 5 (58 °C).