Mutations in STK11 gene in Czech Peutz-Jeghers patients.

ABSTRACT:

Background

Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for development of various neoplasms. The aim of the present study was to characterize the genotype and phenotype of Czech patients with PJS.

Methods

We examined genomic DNA of 8 individuals from five Czech families by sequencing analysis of STK11 gene, covering its promotor region, the entire coding region and the splice-site boundaries, and by multiplex ligation-dependent probe amplification (MLPA) assay designed for the identification of la

SUBMITTER: Vasovcak P 

PROVIDER: S-EPMC2726128 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature