Figure 4
From: Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Preferential expression of the DMD mutated allele correlates with blood XCI but not with muscle XCI in subject #3. A) Automated sequence analysis of DMD gene exon 8 showing the nonsense mutation c.724C > T/p.Gln242X in heterozygous state. B) At muscle cDNA level, only the mutated transcript was detected. C) Genemapper traces of non-digested and Hpa II digested AR alleles in blood and muscle. Blood DNA presented a skewed XCI pattern of 100:0 while muscle DNA exhibited a random pattern of 61:39.