Table 4.

X-Chromosomal inactivation studies^a

AR	Relative size	Mean value (%)	Min (%)	Max (%)	ZMYM3 (%)	Relative size	Mean value (%)	Min (%)	Max (%)	Mean % X-Inac
Family A
I.2	273	21.31	16.95	24.68	I.2	261	26.44	24.85	27.98	23.88
	294	78.69	75.32	83.05		271	73.56	72.02	75.15	76.13
II.2	288	24.09	21.33	25.53	II.2	263	48.26	43.46	58.86	36.18
	294	75.92	74.47	78.67		271	51.74	41.14	56.54	63.83
II.3	288	35.90	23.42	40.16	II.3	263	40.50	32.13	49.13	38.20
	294	64.10	59.84	76.58		271	59.51	50.87	67.87	61.81
III.1	273	85.27	80.01	94.99	III.1	261	87.31	81.28	92.25	86.29
	294	14.74	5.01	19.99		271	12.69	7.75	18.72	13.72
Family B
I.2	272	92.38	85.89	95.75	I.2	267	84.42	8.26	85.88	88.40
	278	7.62	4.25	14.11		271	15.58	14.12	1.74	11.60
Family D
I.2	278	26.70	22.32	32.34	I.2	263	Ni	Ni	Ni	26.70
	281	73.30	67.66	77.68		263	Ni	Ni	Ni	73.30
Family E
II.2	226	75.43	69.95	79.57	II.2	270	66.53	61.17	69.76	70.98
	235	24.57	20.43	30.05		266	33.47	30.24	38.83	29.02
II.3	226	52.46	49.57	55.47	II.3	246	66.23	61.08	72.61	59.35
	235	47.54	44.53	50.43		266	33.77	27.39	38.92	40.66
Family F
I.2	226	83.85	81.28	85.99	I.2	266	71.11	6.57	76.44	77.48
	238	16.16	14.01	18.72		272	28.89	23.56	3.43	22.53
II.2	226	57.88	5.61	59.57	II.2	266	73.37	70.25	75.47	65.63
	229	42.12	40.43	4.39		270	26.63	24.53	29.75	34.38

Ni, not informative for homozygous allele.

^aIn blue the wild-type allele; in red the mutated allele; in green the symptomatic patients (photosensitivity from childhood); in pink the full asymptomatic patients (no photosensitivity and no storage of IX); in black all mild females (late-onset photosensitivity or only mild storage of PPIX).