Menin Mutational Analysis in a MEN I Family / 대한이비인후과학회지

ABSTRACT

BACKGROUND AND OBJECTIVES: MEN I is an autosomal dominant disorder characterized by multiple tumors occurring in the parathyroid, pituitary, and pancreas. There is a variety of mutations in MEN I that are scattered throughout the coding region, thus MEN I family has its unique type of mutations. The aim of this study is to investigate the significance of genetic screening via analyzing the MEN I gene in the MEN I family. SUBJECTS AND METHOD: Three family members related to MEN I were involved for studying the MEN I gene mutation by using single strand conformational polymorphism and DNA sequence analysis of the coding region and the exon-intron boundaries of the MEN I gene. RESULTS: A specific germline mutation of 1023 a to g transition at the splice acceptor site of exon 7 was identified in all three members of the family in the direct sequence analysis of MEN I gene. CONCLUSION: Genetic analysis for mutations in the MEN I family allows identification of individuals predisposed to the disease and enables an early diagnosis and more complete management. Also, this new diagnostic approach is helpful not only in genetic counselling of clinical management of the MEN I families but also in reducing health care expenses and psychological burden of the diseases.