Table 2. Results of the transmission disequilibrium test.

			Central European				Northern European
Mutation	A1 a	A2 b	Freq c	T / U d	OR e	P f	Freq c	T / U d	OR e	P f
c.2282del4	del	Wild type	0.059	189 / 91	2.08	< 10−6	0.047	83 / 40	2.07	7.26 x 10−5
p.R501X	T	C	0.034	97 / 47	2.06	5.70 x 10−5	0.012	27 / 13	2.08	0.058
p.R2447X	T	C	0.010	29 / 17	1.71	0.27	0.014	8 / 22	0.36	0.01
p.S3247X	A	C	0.002	6 / 1	6	0.31	0.004	8 / 6	1.33	1
Combined	Mutation	Wild type	0.105	316 / 150	2.11	< 10−6	0.085	125 / 78	1.60	0.001

^a A1 is the mutant allele.

^b A2 is the wild type allele.

^c Allele frequency of A1 in the family founders.

^d Number of transmitted (T) and un-transmitted (U) A1 alleles.

^e Odds ratio calculated as the ratio of transmitted versus un-transmitted alleles.

^f Empirical p value calculated by flipping transmitted/untransmitted status in order to account for multiple affected siblings in each family.