关键词: Peutz-Jeghers综合征, 基因，STK-11, 突变

Abstract: Mu Yunzhu, Zhang Zhengzhong, Yang Hao. Department of Dermatology, Affiliated Hospital of North Sichuan Medical College, Nanchong 637000, Sichuan, China. Corresponding author: Zhang Zhengzhong, Email: laowaiaeo@163.com 【Abstract】 Objective To detect mutations in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome （PJS）. Methods Blood samples were collected from a 19-year-old male patient with PJS and his unaffected mother, as well as from 100 unrelated healthy human controls. PCR was performed to amplify all the exons of the STK-11 gene followed by sequencing. Results A novel heterozygous missense mutation （G-to-T transition） was identified at position 1251 in the exon 9 of the STK-11 gene in the patient, but not in his mother or the unrelated healthy human controls. Conclusions The missense mutation A417S, which may affect gene transcription and translation, is a specific novel mutation of STK-11 gene.

Key words: Peutz-Jeghers syndrome, Genes, STK-11, Mutation