一种戈谢病突变基因检测方法的建立

摘要

Objective To establish a method for Gaucher disease gene detection, which provides theoretical basis for clinical diagnosis of Gaucher disease.Methods Multiplex fluorescence fragment analysis were used to detect 4 gene loci N188S, F213I, D409H and L444P, which have high mutation frequency in Chinese population.ResultsA gene detection method for genotyping 4 GBA gene loci simultaneously was established.Conclusior The use of multiplex PCR analysis, on the molecular genetics level, can determine the possibility of Gaucher disease by genotyping, which provides reference for the diagnosis of Gaucher disease.%目的建立一种对人类罕见遗传性疾病戈谢病基因(GBA)进行检测的方法,为戈谢病临床诊断提供方法依据.方法运用多重荧光片断分析的方法检测分析N188S、F213I、D409H和L444P这4个中国人群突变频率较高的GBA基因位点.结果建立了一种同时检测4个GBA基因位点分型的基因检测方法.结论运用多重荧光片断分析方法,可在分子遗传水平上,通过基因分型结果间接判断是否存在患病的可能,为戈谢病诊断提供参考依据.