Mutation analysis of STK11 gene in patients with Peutz-Jeghers syndrome(PJS)

Abstract

Objective To detect mutations of STK11 gene in peripheral blood and hamartomatous gastrointestinal polypi of 2 pedigrees and 3 sporadic patients with PJS.Methods Blood samples were obtained from some members in the 2 pedigrees,3 sporadic patients,and 100 normal human controls,and tissue samples from gastrointestinal polypi of 2 patients in pedigree 1 and 100 patients with non-PJS diseases.DNA was extracted from these samples and subjected to PCR for the amplification of 8 upstream exons and flanking sequences of STK11 gene.DNA sequencing was performed.Results There was a new heterozygous mutation,2039 G→C,which leaded to the substitution of tryptophan by cysteine at cedon 308,in exon 8 of STK11 gene in gastrointestinal polyp tissue,but not in peripheral blood,of the 2 patients in pedigree 1.A transition mutation(12703A→G)was detected in intron 2 of STK11 gene in peripheral blood,but not in gastrointestinal polyp tissue,from the 2 patients in pedigree 1.In peripheral blood from the patients of pedigree 2,a reported SNP(16215 G/C)was detected in intron 7 of STK11 gene.No mutation Was detected in any of the 3 sporadic patients.Conclusion A new STK11 gene mutation,G2039C,is found in a Chinese PJS pedigree,which may be involved in the genetic basis of PJS. Key words: Peutz-Jeghers,syndrome; Genes,STK11; Mutation