CAJ | 학술논문

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.
Marfan종합정시상염색체현성유전성결체조직질병,발병솔위0.2‰～0.3‰,병변주요섭급골격、안정、심혈관계통,유시야섭급폐부、피부화경뇌척막등기관.목전연구인위Marfan종합정발병주요원인위원섬유단백기인(fibrillin-1,FBN1)적돌변.본문주요개소료여Marfan종합정상관적FBN1기인급돌변특점,중점대목전기인진단연구정황가이개술.
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.