Figure 2
From: Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Identification of inherited deletion of exons 16 and 17 of the ATP7A gene. (A) PCR amplification of exons 15 to 18 of ATP7A demonstrating 6-kb and 10-kb bands in the proband (P), the mother (Mo), and the grandmother (GrMo), and only the 10-kb band in the father (Fa) and the grandfather (GrFa). size, size marker. (B) Sanger sequence analysis of the 6-kb bands of the proband and the mother, and the 10-kb band of the father, demonstrating a direct connection between introns 15 and 18 of ATP7A (NM_000052.7) in the proband and the mother. (C) Relative mRNA expression of exons 16 to 17 of ATP7A detected by RT-PCR. Data were normalized to exons 3 to 4 of ATP7A. n = 2 technical replicates.
