佛山科学技术学院学报（自然科学版）2018，Vol.36Issue(1)：70-74,5.
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
郑文彦1
作者信息
- 1. 广东华美众源生物科技有限公司,广东佛山528000
- 折叠
摘要
Abstract
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.关键词
戈谢病/β-葡糖脑苷脂酶基因/多重荧光片断分析Key words
Gaucher disease/β-glucocerebrosidase gene/multiplex PCR analysis分类
医药卫生引用本文复制引用
郑文彦..一种戈谢病突变基因检测方法的建立[J].佛山科学技术学院学报（自然科学版）,2018,36(1):70-74,5.
