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Design and Evaluation of a Method for Testing Polymorphisms of Folate-Related Genes Using the Luminex Liquichip System.
Genetic Testing and Molecular Biomarkers ( IF 1.1 ) Pub Date : 2020-03-02 , DOI: 10.1089/gtmb.2019.0202 Xiwen Jiang 1, 2 , Taosheng Huang 1, 2 , Weiping Lin 1, 2 , Xinyu Li 1, 2
Genetic Testing and Molecular Biomarkers ( IF 1.1 ) Pub Date : 2020-03-02 , DOI: 10.1089/gtmb.2019.0202 Xiwen Jiang 1, 2 , Taosheng Huang 1, 2 , Weiping Lin 1, 2 , Xinyu Li 1, 2
Affiliation
Purpose: The methylene tetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, and the methionine synthase reductase (MTRR) A66G polymorphisms are the three most common folate metabolism-related loci in the Chinese population, associated with numerous birth defects or congenital diseases. To facilitate screening and genetic counseling, we established a method for the simultaneous detection of these three polymorphisms using the Luminex liquid suspension chip and multiple asymmetric polymerase chain reactions (PCRs). Materials and Methods: The three polymorphisms were amplified by multiplex PCR with biotinylated primers, followed by hybridization with six probe-linked magnetic microspheres. The mean fluorescent intensity value in each microsphere was detected by Luminex Magpix for polymorphism detection in 150 samples and confirmed by sequencing. Results: The consistency between the Luminex liquid suspension chip method and sequencing was 100%. Among the 150 randomized samples, the minor allele frequency (MAF) of MTHFR C677T reached up to 0.41, which was the most common variant allele, followed by MTRR A66G (MAF = 0.24), and finally MTHFR A1298C (MAF = 0.19). Conclusion: The Luminex liquid suspension chip method can replace sequencing to analyze the MTHFR C677T, MTRR A1298C, and MTRR A66G loci simultaneously as a rapid, convenient, accurate, and stable method for large-scale testing.
更新日期：2020-03-02
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