Abstract:

Objective To analyze the STK11 gene mutation in a sporadic Chinese patient with Peutz-Jeghers syndrome （PJS） so as to provide a basis for the genetic diagnosis and counseling of PJS. Methods Whole blood samples were obtained from a female patient with PJS, her parents and sister, as well as from 100 unrelated, normal individuals as control. Genomic DNA was extracted, and the whole coding region of STK11 gene was amplified by PCR followed by direct sequencing. Results Molecular analysis revealed a novel heterozygous mutation C73S in the patient, which resulted from the substitution of thymine （T） for adenine （A） at codon 217 in exon 1 of STK11 gene. However, the novel mutation was not found in unaffected family members or unrelated controls. Conclusion A novel missense mutation C73S, which may contribute to the development of PJS, is found in the patient.