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儿童型脊髓性肌萎缩症的致病基因SMN已被克隆,该基因有两个几乎相同的拷贝SMN-T(端粒侧SMN)和SMN-C(着丝粒侧SMN)。目前,有关脊髓性肌萎缩症临床表型差异的遗传基础尚不十分清楚。研究表明,SMN-T基因缺失或点突变是导致发病的决定性因素,SMN-T的突变方式及基因型、SMN-C拷贝数及NAIP的功能和缺失与否与表型有关。
The causative gene SMN of pediatric spinal muscular atrophy has been cloned and has two almost identical copies of SMN-T (telomeric SMN) and SMN-C (centromeric SMN). At present, the genetic basis of clinical phenotypic differences in spinal muscular atrophy is not well understood. Studies have shown that SMN-T gene deletion or point mutation is the decisive factor leading to the onset of the disease. The mutations and genotypes of SMN-T, SMN-C copy number and the function or absence of NAIP are related to the phenotype.