Germline Mutations of the STK11 Gene in Korean Peutz–Jeghers Syndrome Patients
Author Information
Author(s): Yoon K-A, Ku J-L, Choi H S, Heo S C, Jeong S-Y, Park Y J, Kim N K, Kim J C, Jung P M, Park J-G
Primary Institution: Korean Hereditary Tumor Registry, Laboratory of Cell Biology, Cancer Research Center and Cancer Research Institute
Hypothesis
Are there germline mutations of the STK11 gene in Korean Peutz–Jeghers syndrome patients?
Conclusion
Germline mutations of the STK11 gene were found in five out of ten Korean Peutz–Jeghers syndrome patients.
Supporting Evidence
- Three kinds of mis-sense mutation and a frame-shift mutation were identified in the STK11 gene.
- These mutations were not detected in 100 control DNA samples.
- An intronic mutation that may cause aberrant splicing was also found.
Takeaway
This study looked at ten Korean patients with a condition called Peutz–Jeghers syndrome and found that five of them had changes in a specific gene that could affect their health.
Methodology
Screening of ten Korean PJS patients using polymerase chain reaction–single-strand conformation polymorphism and DNA sequencing analysis.
Participant Demographics
Ten Korean patients, including nine sporadic cases and one familial case.
Digital Object Identifier (DOI)
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