CAJ | 학술논문

脊髓性肌萎缩症是一组常染色体隐性遗传病,临床表现为进行性肌无力、肌萎缩,是导致婴儿死亡最常见的疾病之一.脊髓性肌萎缩症的致病基因被定位于染色体5q13.2,此外还发现其他多种基因与其临床表型相关.对该病进行基因诊断可以明确病因,预防患儿出生.此文对该病的最新基因学及基因诊断学进展作一综述.
척수성기위축증시일조상염색체은성유전병,림상표현위진행성기무력、기위축,시도치영인사망최상견적질병지일.척수성기위축증적치병기인피정위우염색체5q13.2,차외환발현기타다충기인여기림상표형상관.대해병진행기인진단가이명학병인,예방환인출생.차문대해병적최신기인학급기인진단학진전작일종술.
Spinal muscular atrophy,an autosomal recessive genetic disease associated with progressive muscle weakness and atrophy,is one of the most common genetic disease with high infant ortality.The genes for SMA are located in chromosome 5 q 13.2 and some other genes may also be associated with the clinical phenotype.The genetic diagnosis can validate the cause of disease and prevent the birth of the patients.This article reviews on the latest advances in genomics and gene diagnosis of spinal muscular atrophy.