Table 4

Haplotype analysis of STAT1 mutant allele

Family (see also Ref)⁹	Nationality	Mutation	ID	rs7597768	rs2280234	rs2280233	rs2066804	rs41507345	rs11693463
A
II.2	France	WT	Unaffected	AG	AA	CC	TC	TG	AA
III.1	France	R274Q	Patient	AG	AG	CC	TC	TG	AG
III.2	France	WT	Unaffected	GG	AG	TC	TC	TG	AG
IV.1	France	R274Q	Patient	AG	AG	TC	CC	TG	AG
			Disease allele	?	?	C	C	?	?
C
II.1	Turkey	WT	Unaffected	AG	AG	TT	TT	TG	GG
II.2	Turkey	WT	Unaffected	AA	GG	CC	TT	TT	GG
III.1	Turkey	R274Q	Patient	AG	AG	TC	TT	TG	GG
IV.1	Turkey	R274Q	Patient	AA	AG	TC	TT	TT	AG
IV.2	Turkey	WT	Unaffected	AG	GG	TC	TT	TT	AG
			Disease allele	A	?	?	T	T	G
L
I.1	France	WT	Unaffected	AA	AG	TC	TT	TT	AG
I.2	France	R274Q	Patient	GG	GG	TC	TT	TG	AG
II.1	France	R274Q	Patient	AG	AG	TT	TT	TT	AA
II.2	France	WT	Unaffected	AG	AG	TC	TT	TT	AG
			Disease allele	G	G	T	T	T	A
F
II.2	Argentina	WT	Unaffected	AA	AA	TC	TT	TG	GG
III.1	Argentina	WT	Unaffected	AG	AA	TT	TT	TT	GG
III.2	Argentina	R274W	Patient	AG	AA	TC	TT	TG	GG
IV.1	Argentina	WT	Unaffected	GG	AA	TT	TT	TT	GG
IV.2	Argentina	R274W	Patient	AG	AA	TT	TT	TT	GG
IV.3	Argentina	R274W	Patient	AG	AA	TT	TT	TG	GG
			Disease allele	?	A	T	T	T	G
N
I.1	Germany	WT	Unaffected	GA	AG	TC	TC	TG	AG
I.2	Germany	WT	Unaffected	GA	AG	TC	TC	TG	AG
II.1	Germany	WT	Unaffected	GG	AA	CC	TC	TT	AG
II.2	Germany	R274W	Patient	GG	GG	CC	TT	TG	GG
			Disease allele	G	G	C	T	?	G
Q
I.1	France	WT	Unaffected	GA	AG	TC	TC	TG	AG
I.2	France	WT	Unaffected	AA	AG	TC	CC	TG	AG
II.1	France	R274W	Patient	AA	AA	CC	CC	GG	AA
			Disease allele	A	A	C	C	G	A
Family in this report
I.1	Hungary	WT	Unaffected	GA	AA	TC	TC	GG	AG
II.1	Hungary	R274W	Patient P4	GG	AG	TC	TC	TT	AA
II.2	Hungary	WT	Unaffected	AA	AG	CC	CC	TG	AG
III.1	Hungary	WT	Unaffected	AA	AG	CC	CC	TG	AA
III.2	Hungary	R274W	Patient P5	AG	AG	TC	TC	TG	AG
			Disease allele	G	?	T	T	T	A

Kindreds A, C, F, L, N and Q refer to families described.9 The new kindred refers to the P4 and P5 in this report. Patients from these seven kindreds all present with CMCD and a mutation in STAT1 at position R274. ?, it is not possible to determine the disease causing allele at this position.