Detection Of STK11 Germline Mutation In A Chinese Family With Peutz-Jeghers Syndrome

AMIPeutz-Jeghers syndrome(PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation and an increased risk for the development of both gastrointestinal and extraintestinal malignancies. Germline mutation of STK11, which encodes a serine-threonine kinase, is main responsible for PJS. Several studies suggested that the detection rate of germline mutations in PJS is 80% of PJS patients. We detected STK11 germline mutation in a new Chinese family with Peutz-Jeghers syndrome.METHODSIn the study, we collected blood samples from a Chinese PJS family consisting of a total of ten individuals(six males and four females),including two PJS patients.The whole coding region of STK11/LKB1 was amplified by polymerase chain reaction and products analyzed by direct sequencing.RESULTSMolecular analysisi of the gene in one of the PJS patients revealed a substitution of T for C in intron 5 with proband No1 and another substiution of C for T in intron 3 with proband No2. There were no mutations in all exons.CONCLUSIONOur study found that mutations of STK11 gene existed in its introns with the Chinese PJS family.Because of intron sequences do not participate in transcription, translation process, and have no effect on protein generation. Thus, The resulte indicated that the involvement of other loci in this syndrome expect STK11 gene.KEYWOREPeutz-Jeghers syndrome; STK11 gene; mutation analysis...