肌萎缩侧索硬化家系致病基因SOD1的突变检测 [中文引用][英文引用]

目的 检测一个香港肌萎缩侧索硬化(ALS)家系的铜、锌超氧化物歧化酶基因（Cu/Zn superoxide dismutase，SOD1）的突变位点。方法 对先证者SOD1的5个外显子进行PCR扩增后进行sanger测序。结果 在先证者的SOD1第5外显子发现一个已知的致病性错义突变c.(449 T>C)(p.Ile150Thr)。对家系中其他患者和未发病者进行验证，发现此突变在该家系中与疾病共分离。结论 SOD1错义突变c.（449T>C）（p.Ile150Thr）是该肌萎缩侧索硬化家系患者发病的的原因。

Objective To screen the mutation of copper, zinc superoxide dismutase (SOD1) gene in a Hong Kong amyotrophic lateral sclerosis (ALS) family. Method All the 5 exons of SOD1 gene from the proband were amplified by PCR and then sequenced by Sanger’s method. Result A known pathogenic missense mutation c. (449 T>C) (p. Ile150Thr) in exon 5 of SOD1 was found in the proband and this mutation was cosegregate with the disease in this pedigree. Conclusions The missense mutation (449 T>C) (p. Ile150Thr) of SOD1 was the cause of the amyotrophic lateral sclerosis in the Hongkong family.