Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity

Table 3 6-locus haplotype PHASE reconstructions

6-locus haplotype ID	Amino acid residue						Females (N)*	Males (N)
	48	68	126	188	212	291
	Locus 0 Exon 3	Locus 1 Exon 4	Locus 2 Exon 5	Locus 3 Exon 6	Locus 4 Exon 6	Locus 5 exon 9
1	T	G	A	C	A	G	76	43	NORMAL
2	C	G	A	C	A	G	45	49	AURES
3	T	G	A	T	A	G	34	29	MEDITERANEAN
4	T	G	A	C	G	G	0	2	SIBARI
5	T	G	A	C	A	A	0	1	VIANGCHAN
6	T	A	G	C	A	G	7	5	A-(1)
7	T	A	A	C	A	G	6	5	A-(2)
8	T	G	G	C	A	G	1	15	A-(3)
9	T	A	G	T	A	G	0	1	JA
10	T	A	A	T	A	G	2	2	JB
11	T	G	G	T	A	G	0	2	JC
12	C	A	A	C	A	G	1	7	JD
13	C	G	A	T	A	G	0	1	JE
							172	163	TOTAL

Footnote to Table 3. (a) Haplotypes identified by 6-locus haplotyping. Non-conservative mutated bases are shown in bold. Mutant loci are numbered from left to right and correspond to loci 0–5, as designated in Table 1. Totals represent haplotypes numbers, not patient numbers (except in males where these are identical). A-(1), A-(2) and A-(3) are variants of the A- phenotype [15]. (N)*=haplotype count.

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