Marfan综合征家系资料分析  

Analysis on Pedigrees of Marfan Syndrome

作　　者：陆振虞[1] 顾鸣敏[1] 陈仁彪[1] 孙岳平[2] 蒋伟宏[2] 费虹明[2] 

机构地区：[1]上海第二医科大学医学遗传学教研室,200025 [2]上海第二医科大学生物学教研室,200025

出　　处：《上海第二医科大学学报》1999年第1期16-18,共3页Acta Universitatis Medicinalis Secondae Shanghai

基　　金：国家自然科学基金!39392900-3

摘　　要：目的研究中国人Marfan综合征基因突变情况。方法收集Marfan综合证家系16个，分别来自上海、北京、江西、吉林、浙江等地。16个家系中共有患者30名，其中男性17名，女性13名，年龄12～60岁。结果在30名患者中，散发病例占23．3％，不同家系的患者之间，临床表现程度不一，有很大差异。结论Mar-fan综合征致病基因突变频率较高，基因突变的部位不同。Objective To study on the gene mutation of Marfan syndrome.Methods Investigated 16 pedigrees of Marfan syndorme. They were from Shanghai. Beijing,Jiangxi. Jinn and Zhejiang respectively. Results and Conclusion in these 16 families, there were 30 affected individuals totally, 17 males and 13 females. Among the 30 affected individuals, 7 were sporadic cases (23.3%), indicated a high frequency of mutation. There were obvious differences in clinic features between the patients from different families,suggesting different mutations of disease - causing gene.

关 键 词：家系 马方综合征 基因突变 

分 类 号：R596.1[医药卫生—内科学]