Fig. 3
From: Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia
Case 30, presented as an example analysis of β- thalassemia, both of the parents carry the same mutation (del AAAG) in the CD 41–42 area. A. Sequencing depth of the CD 41–42 area. B. Single nucleotide polymorphisms (SNPs) near the CD 41–42 area were used to construct the haplotype (part of the SNP results). The positions marked in dark green are paternal informative SNPs while the positions 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. M: mother, F: father, E: embryo. CD41–42DelAAAG: HBB gene condon (CD) 41–42 mutation (− 4 bp, AAAG)