Detection of the mutation of MEN1 gene in a pedigree with multiple endocrine neoplasia type 1

Abstract

Objective To dectect the mutation of the MEN1 gene in a pedigree with multiple endocrine neoplasia type 1 (MEN 1).Methods Twelve family members were recruited to this study.Peripheral blood was collected and total genomic DNA was prepared for PCR.PCR products of all 10 exons in MEN1 gene were purified and a direct gene sequence analysis was performed.Subclone sequencing was performed to identify the heterozygosity.Results A one base pair of insertion (1649_1650insC) in exon 10 of MEN1 gene,resulting in a frameshift mutation of codon 514,was detected in a patient with parathyroid hyperplasia diagnosed by pathology.Genetic screening identified the same mutation in other 2 family members and the results of clinical detection were consistent with the diagnostic criteria of MEN1.Conclusions A Chinese family with a new heterozygous mutation (1649_1650insC) in the MEN1 gene,which was not reported previously,is herein described.With genetic screening,it is possible to diagnose the disease at an earlier stage. Key words: Multiple endocrine neoplasia，type 1; Parathyroid hyperplasia; Pituitary neoplasms; MEN1 gene; Mutation