Fig. 1.

Deletion and STR mapping of the alpha thalassemia HBA loci. a --SEA deletion mapping. The positions of reference genes HBZ, HMB, HBA2, and HBA1 are shown at the top of the IGV plots. From read density mapping and position, a homozygous deletion of ~ 14 kb is evident in embryos B2 and B3 (PGT-M case 1). In unrelated embryos L3, L4, L5, and L10 (PGT-SR, case 2), sequences across the deletion are present, confirming homozygous normal sequences. b Identification of a linked polymorphic STR marker D16S3400. Embryos L3, L4, and L5 show evidence of heterozygosity. No reads encompassing this region were found for embryos B2, B3, and L10