Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1

作     者：ZHA Bing-bing LIANG Wang LIU Jun CHENG Juan HONG Xiao-wu LIU Jing LI Yi-ming MA Duan 

作者机构：Department of Endocrinology Shanghai Fifth People's Hospital Shanghai Medical School Fudan University Shanghai 200240 China Key Laboratory of Molecular Medicine Ministry of Education Institute of Biomedical Sciences Shanghai Medical School Fudan University Shanghai 200032 China Department of Immunology Shanghai Medical School Fudan University Shanghai 200032 China Department of Endocrinology Huashan Hospital Shanghai Medical School Fudan University Shanghai 200040 China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2010年第123卷第5期

页      面：569-573页

核心收录：

学科分类：0710[理学-生物学] 090502[农学-动物营养与饲料科学] 07[理学] 08[工学] 0905[农学-畜牧学] 09[农学] 071007[理学-遗传学] 0901[农学-作物学] 0836[工学-生物工程] 090102[农学-作物遗传育种] 

基　　金：This work was partly supported by grants from Fudan University Young Cadreman Fund in 2007  The National Key Scientific Program (No. 2009CB941704) and The National Science and Technology Pillar Program During the Eleventh Five-year Plan Period (No.2006BAI05A05) 

主　　题：germline mutation multiple endocrine neoplasia type 1 single nucleotide polymorphism 

摘      要：Background Multiple endocrine neoplasia type 1 （MEN1） by germline mutations of the tumor suppressor gene MEN1. with MEN1. Methods A large Chinese family with MEN1 was collected MEN1 gene were amplified and sequenced. is an autosomal dominant cancer syndrome which is caused This study aimed to identify mutations in a Chinese pedigree All of the coded regions and their adjacent sequences of the Results In this family, a heterozygous cytosine insertion in exon 10 （c.1546_1547insC） inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. This mutation was linked to a novel single nucleotide polymorphism （SNP）in intron 3 （IVS3＋18C〉T）. Conclusions The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome. The significance of the new found IVS3＋18C〉T of MEN1 needs a further investigation.