The establishment of mutation gene detection for Gaucher disease
ZHENG Wen-yan
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.
Keywords：Gaucher diseaseβ-glucocerebrosidase genemultiplex PCR analysis
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 70-74 )