Marfan综合征的基因突变及基因诊断  

Gene mutations and gene diagnosis of Marfan syndrome

作　　者：崔婉婷[1] 武剑华[2] 金春莲[1] 

机构地区：[1]中国医科大学基础医学院遗传学教研室,沈阳110001 [2]中国医科大学2005级七年制临床医学专业,沈阳110001

出　　处：《国际遗传学杂志》2010年第6期359-363,共5页International Journal of Genetics

基　　金：“十一五”课题国家科技支撑计划（2006BA105A08）

摘　　要：Marfan综合征是常染色体显性遗传性结缔组织疾病,发病率为0.2‰～0.3‰,病变主要涉及骨骼、眼睛、心血管系统,有时也涉及肺部、皮肤和硬脑脊膜等器官.目前研究认为Marfan综合征发病主要原因为原纤维蛋白基因（fibrillin-1,FBN1）的突变.本文主要介绍了与Marfan综合征相关的FBN1基因及突变特点,重点对目前基因诊断研究情况加以概述.Marfan syndrome （MFS） is one of heritable disorders of connective tissue with manifestations involving primarily skeletal, ocular and cardiovascular systems, but also less frequently the lung, skin and integument, and dura. Recent studies on the molecular genetics of MFS have shown that MFS is caused by the mutations in the gene for fibrillin-1 （ FBN1 ）. The following aspects will be described in this review ：the structure and function of fibrillin-1 ;the fibrillin proteins; mutations in the FBN1 gene. This review will focus on the currently available gene diagnostic tests in particular.

关 键 词：MARFAN综合征 原纤维 FBN1 基因诊断 

分 类 号：R5[医药卫生—内科学]