Fig. 2

The PGT-M results of GATA1: c.1019delG. A Sanger sequencing result of the 6 blastocysts. K: keto (G or T); M: amino (A or C); R: purine (G or A); S: strong (G or C); W: weak (A or T). B Schematic diagram representing the SNP-based haplotype analysis of the family members and embryos of GATA1. Among the 6 embryos, one blastocyst carried a heterozygous variant, three carried hemizygous variant, while the rest two were unaffected. The SNP ID numbers highlighted in dark blue and orange refer to the upstream and downstream informative SNPs, respectively. The dark blue and the dark orange bars represent the normal haplotype of the father and the mother, respectively. The slashes filled orange bar denotes the variant haplotype of the mother. A 0/0 in the haplotype means unsuccessful genotyping for the marker in that sample. C Prenatal diagnosis of amniotic fluid DNA. Sanger sequencing showed that the newborn baby was unaffected for GATA1 gene