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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series

Fig. 2

Confirmation of SNP calling by PCR-based restriction enzyme digestion and Sanger sequencing. a. Restriction enzyme digestion generated two PCR products of 57 bp and 87 bp, indicating an AA pattern which did not match the SNP call of GA. Sanger sequencing confirmed the PCR result of AA sequence (case number 16 in Additional file 1: Table S2); b. Restricted enzyme digestion generated three PCR products of 36 bp, 81 bp and 117 bp, indicating an AC pattern which did not match the SNP call of AA. Sanger sequencing confirmed the PCR result of AC sequence (case number 6 in Additional file 1: Table S2). The related primer sequence and enzyme cutting site are shown in the figure. Primer sequences are shown in capital letters

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