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Figure 3 | BMC Medical Genetics

Figure 3

From: High prevalence of germline STK11mutations in Hungarian Peutz-Jeghers Syndrome patients

Figure 3

PCR analysis and sequencing results of the proband of family HP10 presenting with a large genomic deletion encompassing exons 3-7. Panel A shows the results of the PCR amplification of the cDNA sample of the mutation carrier along with samples from two negative controls (designated as 'neg'), using a sense primer in exon 1 and an antisense primer in exon 8. The extra band in the mutation carrier sample (marked by a red arrow) indicates the presence of a variant mRNA species resulting from fusion of exon 1 to exon 8. Faint bands on the gel are most likely the results of heteroduplex molecules. MW: molecular weight marker; neg: mutation negative samples. The sequencing result illustrating the skipping of exons 2-7 is shown on Panel B with the sequences of the normal as well as the mutant allele given below the sequenogram.

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