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Figure 1 | BMC Medical Genetics

Figure 1

From: Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Figure 1

The SDHB mutation c.423+1G>A disrupts normal splicing. Primers in exon 3 and exon 5 were used to amplify cDNA. Lane 1: Patient S-020: In addition to a product of ~250 bp, a fragment missing 54 bp was also amplified (arrow). Sequencing showed an SDHB cDNA missing the proximal portion of exon 4. Lanes 2–4: RNA from three healthy controls included in the analysis revealed no additional PCR fragments, providing no evidence that the shorter product could be the result of normal alternative splicing. Lane 5: Water control. Lane 6: 100 bp ladder.

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