Menin Mutational Analysis in a MEN I Family.
- Author:
Kang Dae LEE
1
;
Joo Yeun KIM
;
Hyo Sung MUN
;
So Hee CHOI
;
Hwan Ho LEE
;
Young Sik CHOI
;
Yo Han PARK
;
Shinya UCHINO
Author Information
1. Department of Otolaryngology-Head and Neck Surgery, Kosin University College of Medicine, Busan, Korea. kdlee@ns.kosinmed.or.kr
- Publication Type:Original Article
- Keywords:
Multiple endocrine neoplasia type I (MEN I);
Mutational analysis;
PCR
- MeSH:
Clinical Coding;
Delivery of Health Care;
Early Diagnosis;
Exons;
Genetic Testing;
Germ-Line Mutation;
Humans;
Male;
Multiple Endocrine Neoplasia Type 1*;
Pancreas;
Polymerase Chain Reaction;
RNA Splice Sites;
Sequence Analysis;
Sequence Analysis, DNA
- From:Korean Journal of Otolaryngology - Head and Neck Surgery
2005;48(3):347-351
- CountryRepublic of Korea
- Language:Korean
-
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.
