Primer, reagent kit and detection method for detecting human CYP2C19 gene mutation
A technology for CYP2C19 and human detection, which is applied in biochemical equipment and methods, measurement/testing of microorganisms, DNA/RNA fragments, etc., can solve the problems of high false positive rate, low sensitivity, and small throughput, and achieve high sensitivity, The test results are accurate and specific
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[0025] There are at least 14 mutant genes and 18 allelic mutations in CYP2C19, and the CYP2C19*2 and CYP2C19*3 alleles account for more than 99% of the poor metabolic phenotype (PM) of Orientals. The enzymes encoded by CYP2C19*2 and CYP2C19*3 alleles are inactive, and the base mutation (G / A) at position 681 of exon 5 of the CYP2C19*2 allele variation forms an abnormal splicing junction, making During transcription, 40 base pairs (643-682 bp) are lost at the beginning of exon 5, thereby losing amino acids 215-227 during translation, which shifts the reading frame at the beginning of amino acid 215, so it is downstream of amino acid 215 A stop codon was generated in advance at the 20th amino acid, so that the protein synthesis was terminated prematurely, and as a result, the truncated protein with 234 amino acids lost its catalytic activity. The CYP2C19*3 allele is a G / A mutation at position 636 of exon 4, which produces an early stop codon, stops protein synthesis, and loses CY...
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