A novel mutation of the STK11 gene in a family with Peutz-Jeghers syndrome / 局解手术学杂志

ABSTRACT

Objective To detect the mutation of STK11 in a family with Peutz-Jeghers syndrome.Methods Genomic DNA was extracted from peripheral blood and harmatoma polypus of all the patients,and 9 exons and noncoding regions of STK11 were amplified by PCR.Cycle sequencing was used to analysis the DNA sequence,and western blot was used to detected the mutational STK11 protein in the harmatoma polypus.Results The 21th codon CAG in exon 5 of STK11 gene transformed to TAG in all the patients,which translated into a truncated STK11 protein.Conclusion This novel mutation is the pathogeny of PJS in this family,which could be an indicator for the diagnosis of PJS in this family.And it may lead to a higher risk of cancer in patients.