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家族性肌萎缩性侧索硬化症是一种进行性致死性神经系统变性病,包括ALS1-ALS6、TAU病和ALS-额颞痴呆综合征8种亚型,分别呈常染色体显性和隐性遗传。呈常染色体显性遗传的亚型包括ALS1、ALS3、ALS4、ALS6、TAU病、ALS-额颞痴呆综合征。目前了解最多的是ALS1,致病基因定位于21q22 1-22.2;ALS3致病基因位点不明;ALS4致病基因定位于9q34;ALS-额颞痴呆综合征致病基因也定位于9号染色体;ALS6致病基因定位于18号染色体;TAU基因突变导致TAU病。呈常染色体隐性遗传的亚型包括ALS2和ALS5,前者基因定位于2q33,后者定位于15q15.1-q21.1。
Familial amyotrophic lateral sclerosis is a progressive, lethal nervous system degenerative disease that includes 8 subtypes of ALS1-ALS6, TAU disease and ALS-Fronto-temporal dementia syndrome with autosomal dominant and recessive Genetic. Subtypes that are autosomal dominant include ALS1, ALS3, ALS4, ALS6, TAU disease, ALS-frontotemporal dementia syndrome. At present, the most known is ALS1, the pathogenic gene is located at 21q22 1-22.2, the locus of ALS3 is unknown, the gene of ALS4 is located at 9q34, the gene of ALS-Fronto-temporal syndrome is also located on chromosome 9, ALS6 pathogenic genes located on chromosome 18; TAU gene mutations lead to TAU disease. The autosomal recessive subtypes include ALS2 and ALS5, the former locating at 2q33 and the latter locating at 15q15.1-q21.1.