女性Duchenne/Becker型肌营养不良症携带者发病机理的研究进展  

Advances in the Pathogenic Research of Female Carriers with Symptomatic Duchenne Muscular Dystrophy

作　　者：周爽[1,2] 谢平原[1,2] 卢光琇[1,2,3,4] 林戈[1,2,3,4] 

机构地区：[1]中南大学生殖与干细胞工程研究所,湖南长沙410078 [2]人类干细胞国家工程研究中心,湖南长沙410078 [3]卫生部干细胞与生殖工程重点实验室,湖南长沙410078 [4]中信湘雅生殖与遗传专科医院,湖南长沙410078

出　　处：《现代生物医学进展》2017年第25期4986-4989,共4页Progress in Modern Biomedicine

基　　金：国家重点基础研究发展计划(2015cb9449020)

摘　　要：Duchenne/Becker型肌营养不良(DMD/BMD)是一类常见的X连锁隐性遗传病,多见于男性患者,女性携带者一般不发病,因为女性体内会发生随机的X染色体失活,而使体内呈现镶嵌型。目前,越来越多的文献报道DMD/BMD女性携带者发病的病例,其症状有轻有重,但发病机制尚不明了,大多数研究认为与X染色体的偏斜失活有关,即携带DMD突变的X染色体异常活化,使正常DMD基因弱或无表达,从而无法生成正常功能的dystrophin蛋白,表现为DMD/BMD。本文主要综述了X偏斜失活与DMD女性携带者发病相关性的研究进展。DMD/BMD is a X-linked recessive hereditary disease.It predominantly affects males.While female carriers do not have symptoms,due to their inactive X chromosome make it present mosaic.Recently,more and more papers reported that a clinically significant proportion of DMD/BMD female carriers have symptoms.They presented variable degrees of symptoms.But the mechanism of the pathogencity is still not clear.Most of the research considered that the dominating reason is the skewed X inactivation.It means that the predominant expression of the DMD mutant allele make the normal one have weak expression,thus no function dystrophin proteins could be generate,manifested as DMD/BMD.In this paper,we mainly summarized the relationship between skewed X inactivation and pathogenicity of the symptomatic DMD female carriers.

关 键 词：Duchenne/Becker型肌营养不良 女性携带者 X偏斜失活 

分 类 号：R394[医药卫生—医学遗传学] R596[医药卫生—基础医学]