Fig. 2
From: Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia
Case 13 presented as an example analysis of α- thalassemia (part of the single nucleotide polymorphism [SNP] results). A is a table of non-polymorphic loci that lie within the SEA deletion. Failure to amplify indicates homozygosity for the deletion. Disease bearing haplotypes were deduced from the two affected embryos (E5 and E7). The rows represent the position of the SEA deletion. Columns represent allele-specific read counts. B Single nucleotide polymorphisms in the SEA area were used to construct the haplotype. The positions marked in dark green are paternal informative SNPs, while those in light green are maternal informative SNPs. The yellow squares represent allele dropout sites. M0 and F0 represent an affected haplotype from the mother and father, respectively. M1 and F1 indicate the normal inherited allele. A question mark represents the undetected site in the SEA area. M: mother, F: father, E: embryo