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Figure 4 | BMC Medical Genetics

Figure 4

From: Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Figure 4

Patient VI: Leaky splice site mutation and double transcript in a BMD patient. The mutation is localized within intron 42 (see schematic representation of the DMD gene reproduced in the upper part of the figure). A. Genomic analysis of the 3' splice site of intron 42 in patient VI. The electropherogram depicts the nucleotide substitution c.6118-3C>A in IVS42 (red box). B. Agarose gel electrophoretic analysis of PCR products derived from the RT-PCR of DMD cDNA nucleotides 5959-6624 form patient VI's muscle-derived cDNA. Transcript analysis reveals the presence of two different RT-PCR products in the patient (Pt): the expected 665-bp full-length band, and a shorter 493-bp band; the RT-PCR product from a control subject demonstrates the presence of the wild-type 665-bp band. C. Sequence analysis of the RT-PCR products demonstrates that the 665-bp band corresponds to the full-length cDNA, while the 493-bp band corresponds to a product carrying the deletion of exon 43.

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BMC Medical Genetics

ISSN: 1471-2350

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