Fig. 4.

Allelic haplotype mapping to resolve the carrier status of the embryos. Shown is a representative example of a reference embryo (here embryo G of case 38744) in haplotype linkage analysis. By measuring the informative SNPs flanking the breakpoint from the parents and reference embryos, the haplotype with linkage to the translocation allele, CAACGG, can be deduced. Therefore, the other haplotype, TGGGAA, must be linked with the normal allele. In the same manner, the haplotype of the ploidy-balanced embryo B inherited from the parental RecT carrier can be identified, and the carrier status of embryo can be identified. The analysis indicates that embryo B inherited the haplotype TGGGAA and was identified as a normal embryo. The embryo was implanted into the uterus of the patient, resulting in a successful pregnancy and live birth.