脊肌萎缩症研究进展  

Advance in the Research of Spinal Muscular Atrophy

作　　者：孟英韬[1] 宋力[1] 党利亨[1] 

机构地区：[1]天津儿童医院儿科研究所,300074

出　　处：《国际遗传学杂志》2009年第3期230-233,共4页International Journal of Genetics

摘　　要：脊肌萎缩症是一组常见的引起婴幼儿死亡的遗传病，因为缺乏治疗手段，该病研究曾不受重视。自1995年确定脊肌萎缩症致病基因是一种看家基因——运动神经元生存基因（SMN1）以来，围绕在这种疾病背后的谜团吸引了多国学者的兴趣，成为近年遗传病研究的一个热点，本文就脊肌萎缩症遗传基础，SMN蛋白生物功能，脊肌萎缩症携带者检测及治疗方面新策略等内容作一综述。Spinal muscular atrophy （SMA） is a group of common mherited disorders lethal to infants and children. Lack of treatment methods made scientists pay less attention to spinal muscular atrophy in the past. Since the identification of SMN1 gene, one of the housekeeping genes, as determinant of SMA in 19951 puzzles behind SMA arouse people deep interests to elucidate them. It gradually became a hot spot in research of genetic disease. This paper reviews genetic basis of SMA, biological function of SMN protein, carrier testing and new therapy strategies for this disease.

关 键 词：脊肌萎缩症 运动神经元生存基因 携带者检测 治疗 

分 类 号：R746.4[医药卫生—神经病学与精神病学] R746.204[医药卫生—临床医学]