Table 3

Sequencing results of extracted DNA and MDA products

Patient	Mutation name	Gene	Nucleotide position	Codon number	Normal sequence	Mutation identified*
*In each sample, the same mutation was identified whether the sequencing template was MDA product or DNA isolated using the column method (see methods).
Hb, haemoglobin; MDA, multiple displacement amplification.
5	Hb Buffalo	α1	424	89	CAC	CAG
7	Hb G-Pest	α1	377	74	GAC	AAC
8	Hb Fuchu-I	α1	371	72	CAC	TAC
19	Hb Columbia Missouri	α1	420	88	GCG	GTG
22	Hb Bassett	α1	438	94	GAC	GCC
20	Hb Buffalo	α1	424	89	CAC	CAG
3	Hb Manitoba	α2	605	102	AGC	CGC
6	Poly A signal mutation	α2	819		AATAAA	AATAAG
11	Hb Chicago	α2	705	136	CTG	ATG
12	Constant Spring	α2	723	142	TAA	CAA
9	Intron mutation	α2	509		G	T
14	Hb Coen	α2	694	132	GTG	GGG
15	Hb Beth Israel	β	488	102	AAC	AGC
1	Hb E	β	129	26	GAG	AAG
2 and 4	Hb S	β	70	6	GAG	GTG
10	Hb Austin	β	304	40	AGG	AGC
13	Intron mutation	β	148	\	G	C
16	Hb Atlanta	β	407	75	CTG	CCG
17	Hb Athens GA	β	303	40	AGG	AAG
18	Hb β⁰ Thal. (stop codon)	β	299	39	CAG	TAG
21	Promoter mutation (position −29)	β	−29	\	A	G
23	Promoter mutation (position −29)	β	−29	\	A	G