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Denaturing high-performance liquid chromatography profiles of two multiplex PCR sets showing copy number alterations of STK11 (A) PJS01 (red chromatogram) and PJS04 (blue chromatogram) patients and (B) PJS02 patient (green chromatogram). The left and right panels represent multiplex PCR set 1 and 2, respectively. Genes and exons under study are indicated on the top. The chromatograms in black represent normal control samples of the same gender with patients. The identified exonic deletions are marked by an arrow.
Source publication
Introduction
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder caused by germline mutations in the serine-threonine kinase 11 (STK11) tumor suppressor gene. This syndrome is characterized by hamartomatous gastrointestinal polyps, mucocutaneous melanin pigmentation, and a higher risk of developing various cancers.
Methods...
