Skip to main content
Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Figure 1

Distribution of the X chromosome inactivation pattern in peripheral blood mononuclear cells of X-ALD female carriers and healthy controls. A) A severe (≥90:10) skewing of XCI was found in 30% of X-ALD carriers (9/30) and 8.6% (23/268) of healthy controls (HCs) (p = 0.0018, Fisher's exact test); a moderate (≥75:25) skewing of XCI was found in 46.7% of carriers (14/30) and 22.4% (60/268) of HCs (p = 0.0065, Fisher's exact test); a random XCI was found in 23.3% of carriers (7/30) and 69% (185/268) of HCs (p = 0.0001, Fisher's exact test). B) A severe skewing of XCI was found in 3/9 symptomatic and 6/21 asymptomatic carriers (p = 1.00; Fisher's exact test); a moderate skewing of XCI was found in 3/9 symptomatic and 11/21 asymptomatic carriers (p = 0.4397; Fisher's exact test); a random XCI was found in 3/9 symptomatic and 4/21 asymptomatic carriers(p = 0.6402; Fisher's exact test). Severe = ≥90:10; moderate = 75:25 to 89:11; random = 50:50 to 74:26.

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172