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马方综合征分子遗传学研究进展 被引量：1

Recent molecular genetics research progress in Marfan syndrome
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摘要 马方综合征(MFS)是一种常染色体显性遗传性结缔组织病,主要累及眼、骨骼和心血管系统,严重的心血管并发症是患者的主要致死因素。研究发现,原纤维蛋白(FBN)基因家族和转化生长因子β受体(TGFBR)基因家族是MFS主要的突变基因家族。本文综述了MFS的主要突变基因家族、基因突变主要的检测方法、突变基因型与表型的相关性及对MFS诊治的未来展望。 Marfan syndrome（MFS） is an autosomal dominantly inherited connective tissue disorder characterized by ocular,skeletal manifestations and cardiovascular.The severe cardiovascular complications are the main lethal factors in patients with MFS.The study found that original fibrin（FBN） and transforming growth factor beta receptor（TGFBR） gene families are the main mutations in MFS.This paper reviews the main mutant genes,detection methods of mutation,correlation of genotype and phenotype,diagnosis and therapy of MFS in the future.
作者 李宝珠 舒晓蓉 陈仁华 王景峰
机构地区 中山大学孙逸仙纪念医院
出处 《中国当代医药》 2016年第12期15-18,共4页 China Modern Medicine
关键词 马方综合征 分子遗传学 基因检测 研究进展 Marfan syndrome Molecular genetics Gene detection Research progress
分类号 R596 [医药卫生—内科学]
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参考文献26

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二级参考文献23

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中国当代医药
2016年 第12期

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