医学分子生物学杂志2012，Vol.9Issue(1)：68-72,5.DOI:10.3870/j.issn.1672-8009.2012.01.014
1型多发性内分泌腺肿瘤综合征Men1基因变异
Men1 Gene Mutation in Multiple Endocrine Neoplasia Type 1(MEN1)
姚飞 1李家亮 2陈继冰1
作者信息
- 1. 中国科学院广州生物院附属复大医院,广州市,510305
- 2. 广州复大肿瘤医院,广州市,510305
- 折叠
摘要
Abstract
Multiple Endocrine Neoplasia type 1 ( MEN1) is an autosomal dominant disorder characterized by tumor occurrence in parathyroids, pancreas and anterior pituitary and gene muata-tion of Men\ at the chromosome Ilql3. Massive Men\ gene mutations were found in MEN1 patients. Of them, 9 point-mutations account for over 20 % of all germ-line mutations. And fragments of exon deletion are also found in these diseases. Because MEN1 is characterized with diverse clinical manifestations and high penetrance, not only MEN1 tumors, but also sporadic insulinoma, and sporadic carcinoid tumor, have been shown to carry germline MEN1 mutations. Hence, mutation a-nalysis of MEN1 gene in asymptomatic members of MEN1 families is helpful to predict MEN1 tumor development, and mutation screening is of great importance in diagnosis, prevention and treatment of tumor diseases.关键词
1型多发性内分泌腺肿瘤综合征/Men1基因/基因突变Key words
multiple endocrine neoplasia type 1/ Men! / gene mutation分类
医药卫生引用本文复制引用
姚飞,李家亮,陈继冰..1型多发性内分泌腺肿瘤综合征Men1基因变异[J].医学分子生物学杂志,2012,9(1):68-72,5.
