Simultaneous Amplification, Detection, and Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene Mohamed Jama, Lesa Nelson,

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Presentation transcript:

Simultaneous Amplification, Detection, and Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene Mohamed Jama, Lesa Nelson, Rong Mao, Elaine Lyon The Journal of Molecular Diagnostics Volume 9, Issue 5, Pages 618-623 (November 2007) DOI: 10.2353/jmoldx.2007.070027 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Schematic of primer locations for the generation of artificial template for IVS 2-2 A>G mutation. A: IVS 2-2 forward primer; B: IVS 2-2 reverse primer; C: artificial oligodeoxyribonucleotides template forward primer; and D: artificial oligodeoxyribonucleotides template reverse primer. “X” indicates the position of the mutation. The Journal of Molecular Diagnostics 2007 9, 618-623DOI: (10.2353/jmoldx.2007.070027) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Multiplex genotyping of nine common mutations/variants from eight galactosemia samples. A normal wild-type DNA and nine mutations/variants are shown. For each sample, all nine alleles are analyzed and detected as a wild type or a mutant in each size range (bin). Mutations are labeled as “MUT _”. Vertical scales are peak heights measured in relative fluorescent units, and horizontal scales are ranges of oligodeoxyribonucleotides sizes for normal and mutant genotypes detected with each allele. a: Wild-type genotype; b: heterozygous IVS2-2, A>G, artificial template; c: heterozygous p.S135L, C>T; d: heterozygous p.T138M (reverse strand genotyped), G>A mutation; e: compound heterozygous p.Q188R, A>G and p.Y209C, T>C (reverse strand genotyped); f: compound heterozygous p.L195P, T>C and p.N314D, A>G; g: heterozygous p.L218L, G>A (reverse strand genotyped), and p.N314D, A>G; h: heterozygous p.K285N, G>T. The Journal of Molecular Diagnostics 2007 9, 618-623DOI: (10.2353/jmoldx.2007.070027) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 a: Sample with nontargeted mutation at locus p.L218L, showing a C base incorporated instead of the expected A base and a shift in the size. b: DNA sequence analysis showing the variant to be p.L218Q due to c.652delC. The Journal of Molecular Diagnostics 2007 9, 618-623DOI: (10.2353/jmoldx.2007.070027) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions