Table 1.

Results of the haplotype analyses.

Haplotypes	p values of the maternal transmission	Frequencies of the transmitted haplotype	Haplotypes	p values of the paternal transmission	Frequencies of the transmitted haplotype
(a) Revisited cohort [15] - 47 trios
H-AS1	0.275a	0.381a	H-AS1	0.513a	0.429a
H-AS2	0.467a	0.412a	H-AS2	0.527	0.400
H-AS3	0.058	0.800	H-AS3	0.739	0.444
H-AS4	0.706	0.429	H-AS4	0.317	0.667
H-AS5	0.180	0.800	H-AS5	0.317	0.667
H-AS6	Not observed	Not observed	H-AS6	Not observeda	Not observeda
(b) New cohort this study - 72 trios
H-AS1	0.398	0.429	H-AS1	0.223	0.394
H-AS2	0.695	0.462	H-AS2	0.371	0.600
H-AS3	0.058	0.800	H-AS3	0.808	0.529
H-AS4	0.248	0.667	H-AS4	0.527	0.400
H-AS5	0.317	0.333	H-AS5	0.157	0.750
H-AS6	Not observed	Not observed	H-AS6	Not observed	Not observed
(c) Combined cohorts - 119 trios
H-AS1	0.181	0.411	H-AS1	0.174	0.407
H-AS2	0.446	0.442	H-AS2	0.715	0.533
H-AS3	0.007	0.800	H-AS3	1.000	0.500
H-AS4	0.491	0.579	H-AS4	0.819	0.526
H-AS5	1.000	0.500	H-AS5	0.090	0.706
H-AS6	Not observed	Not observed	H-AS6	Not observed	Not observed

After revisiting the data from the previous study and resequencing of single samples one trio was removed as the patient and both parents were heterozygous for the same haplotypes and thus the transmitted and non-transmitted haplotypes could not be assigned to the respective parent. In another trio a sequencing error led to the incorrect observation of H-AS6 in the father and the transmitted haplotype from the mother was assigned incorrectly.

P-values that show maternal over transmission or a trend towards maternal over transmission are highlighted in bold.

^aData have changed.