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Figure 3 | BMC Medical Genetics

Figure 3

From: Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Figure 3

Comparison between X-inactivation pattern and transcript quantification. A) X-inactivation assay based on AR gene methylation. The upper line corresponds to PCR products of undigested muscle DNA, showing the two alleles at AR locus; the lower shows the products of DNA amplification after digestion with the methylation-sensitive enzymes HpaII and CfoI. B) RT-PCR analysis with a High Sensitivity DNA chip (Agilent). The ratios between wild-type and mutated transcripts are indicated. Carrier 14 is an asymptomatic female with a moderately skewed X-inactivation pattern of 87:13 and a transcript ratio of 65:35 (wt:deleted); symptomatic carrier 3 presented X-inactivation of 75:25 and a transcript ratio of 70:30 (wt:duplicated); carrier 6 is a symptomatic female featuring random X-inactivation of 54:46 and transcript ratio of 89:11 (wt:deleted).

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BMC Medical Genetics

ISSN: 1471-2350

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