CAJ | 학술논문

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.
척기위축증시일조상견적인기영유인사망적유전병,인위결핍치료수단,해병연구증불수중시.자1995년학정척기위축증치병기인시일충간가기인--운동신경원생존기인(SMN1)이래,위요재저충질병배후적미단흡인료다국학자적흥취,성위근년유전병연구적일개열점,본문취척기위축증유전기출,SMN단백생물공능,척기위축증휴대자검측급치료방면신책략등내용작일종술.
Spinal muscular atrophy (SMA) is a group of common inherited 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 1995 ;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.