Table 2. Confirmation of mutations by... | American Society of Hematology

Table 2.

Confirmation of mutations by restriction enzyme digest

Mutation	Exon	RE	+/−	Primer
Leu232Gln	7	CfrI	+	See Table 1 exon 7
Ser263Cys	7	Eco47I	−	See Table 1exon 7
Pro353Leu	9	MboII	+	See Levy et al¹⁸
Trp390Xaa	10	BseNI	−	Sn: gca gca gtg cat ggg cgc tgg tct aac t
				Asn: ggt acc tgg ggt tgt tgc act gcc gcc
2549–2550delAT	20	NA		See Table 1 exon 20
Arg910Xaa	21	HphI	+	Sn: gag aag gct ccc tcc cca tgg ggc ag
				Asn: ccc agg agc atc ccg ggg ccc aca cct
Arg1034Xaa	24	MaeI	−	See Levy et al.¹⁸
4143insA	29	MboII	+	Sn: cca tgg gca gca ggt gct cta ctg gga gtg a
				Asn: cgg tac cca tga ttg gag ggt cca gta c

Mutation	Exon	RE	+/−	Primer
Leu232Gln	7	CfrI	+	See Table 1 exon 7
Ser263Cys	7	Eco47I	−	See Table 1exon 7
Pro353Leu	9	MboII	+	See Levy et al¹⁸
Trp390Xaa	10	BseNI	−	Sn: gca gca gtg cat ggg cgc tgg tct aac t
				Asn: ggt acc tgg ggt tgt tgc act gcc gcc
2549–2550delAT	20	NA		See Table 1 exon 20
Arg910Xaa	21	HphI	+	Sn: gag aag gct ccc tcc cca tgg ggc ag
				Asn: ccc agg agc atc ccg ggg ccc aca cct
Arg1034Xaa	24	MaeI	−	See Levy et al.¹⁸
4143insA	29	MboII	+	Sn: cca tgg gca gca ggt gct cta ctg gga gtg a
				Asn: cgg tac cca tga ttg gag ggt cca gta c

2549–2550delAT was confirmed by electrophoresis and heteroduplex generation only. Boldface characters refer to mismatch nucleotides in primers used to create a diagnostic PCR product. Primers are given in the 5′-3′ direction.

RE indicates restriction enzyme; +/−, mutation either creates (+) or eliminates (−) a restriction site; Sn, sense; Asn, antisense; and NA, not available.

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