Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD)  A. Destouni, M. Poulou, G. Kakourou, C. Vrettou, M. Tzetis, J. Traeger-Synodinos, S. Kitsiou-Tzeli  Journal of Cystic Fibrosis  Volume 15, Issue 2, Pages 163-170 (March 2016) DOI: 10.1016/j.jcf.2015.09.009 Copyright © 2015 European Cystic Fibrosis Society. Terms and Conditions

Fig. 1 Detailed presentation of results from a clinical PGD cycle (case 4 — mutations tested p.Phe508del and p.Leu732X). Out of 10 analyzed blastomeres, two (B3 and B6) failed to amplify at all loci. a) Genotyping for p.Phe508del using a Luna probe. The gray profile corresponds to the wild type samples, the red to the heterozygous samples and the blue to the homozygous for the mutation. b) Scanning for the detection of p.Leu732X mutation without the use of Luna probe. The gray profile corresponds to the heterozygous samples for the mutation and the red to the wild type samples. The blue profile could not be assigned to a genotype, probably due to ADO and the results were confirmed based on STR analysis. c) Analysis of the STR's profiles for the six markers used. NI indicates a non-informative marker. The assigned genotypes for each embryo are presented at the bottom. Journal of Cystic Fibrosis 2016 15, 163-170DOI: (10.1016/j.jcf.2015.09.009) Copyright © 2015 European Cystic Fibrosis Society. Terms and Conditions