一种戈谢病突变基因检测方法的建立  

The establishment of mutation gene detection for Gaucher disease

作　　者：郑文彦 

机构地区：[1]广东华美众源生物科技有限公司,广东佛山528000

出　　处：《佛山科学技术学院学报（自然科学版）》2018年第1期70-74,共5页Journal of Foshan University(Natural Science Edition)

摘　　要：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。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.Results A gene detection method for genotyping 4 GBA gene loci simultaneously was established. Conclusion 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.

关 键 词：戈谢病 β-葡糖脑苷脂酶基因 多重荧光片断分析 

分 类 号：R725.8[医药卫生—儿科]