Julie Di Cristofaro, Monique Silvy, Jacques Chiaroni, Pascal Bailly

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Single PCR Multiplex SNaPshot Reaction for Detection of Eleven Blood Group Nucleotide Polymorphisms Julie Di Cristofaro, Monique Silvy, Jacques Chiaroni, Pascal Bailly The Journal of Molecular Diagnostics Volume 12, Issue 4, Pages 453-460 (July 2010) DOI: 10.2353/jmoldx.2010.090222 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Multiplex PCR amplification of nine blood gene fragments. A 3% agarose gel of the PCR products from two common blood samples (lanes 1 and 2). Eight amplicon bands were observed on the agarose gel because YT and FY bands have similar molecular weights (398 and 392, respectively). Lane 3 shows control PCR without gDNA. Arrows indicate the two missing fragments (260 and 986 bp) when GYPB gene deletion occurred in blood sample phenotyped S–s–U–. The Journal of Molecular Diagnostics 2010 12, 453-460DOI: (10.2353/jmoldx.2010.090222) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 GeneMapper electropherograms of SNaPshot reactions. Plots of size (nt) versus relative fluorescence units (rfus) for 7 DNA samples exhibiting variations at the 11 SNP sites analyzed. The electropherograms correspond to extended genotype following: A: FY*1/*1, DO*1/*2, MNS*3/*4, JK*2/*2, CO*1/*1, KEL*1/*2, YT*1/*1; B: FY*Fy/*Fy, DO*2/*2, MNS*4/*4, JK*1/*1, CO*1/*1, KEL*2/*2, YT*1/*1; C: FY*1/*Fy, DO*1/*2, GYPBS-Int5/GYPBS-Int5, JK*1/*1, CO*1/*1, KEL*2/*2, YT*1/*1; D: FY*Fy/*Fy, DO*1/*1, MNS*3/GYPBS-Int5, JK*1/*1, CO*1/*1, KEL*2/*2, YT*1/*1; E: FY*1/*X, DO*1/*2, MNS*3/*4, JK*1/*2, CO*1/*1, KEL*2/*2, YT*1/*2; F: FY*1/*X, DO*1/*2, MNS*3/*3, JK*2/*2, CO*1/*2, KEL*2/*2, YT*1/*1. G shows the electropherogram for a rare patient in whom homozygous T230 and T243 for GYPB gene was identified, suggesting a GYPBS−230 allele either in double or single dose in trans with the GYPB gene deletion. Its extended genotype was as follows: FY*Fy/*Fy, DO*1/*2, GYPBS−230/GYPBS−230, JK*1/*1, CO*1/*1, KEL*2/*2, YT*1/*1. All plots were collected using POP-7 polymer under the described conditions. The top line indicates positions and blood allele names. The Journal of Molecular Diagnostics 2010 12, 453-460DOI: (10.2353/jmoldx.2010.090222) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions