摘要
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.(449T>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. Resuls A known pathogenic missense mutation c. （449 T〉C） （p. IlelSOThr） in exon 5 of SODlwas found in theproband and this mu tationwas cosegregatewith the disease in this pedigree. Conclusions The missense mutation （449 T〉C） （p. Ilel50Thr） of SODlwas the cause of the amyotrophic lateral sclerosis in the Hongkong family.
出处
《中国产前诊断杂志（电子版）》
2015年第4期28-30,34,共4页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
