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. 2020 May 29;2020(3):hoaa018. doi: 10.1093/hropen/hoaa018

Table II.

Example of single nucleotide polymorphism informativity results for an autosomal dominant disorder.

Affected male partner Unaffected female partner Informativity ADO detection in the embryo Detection of maternal contamination Additional info on monosomy/trisomy Comments Recommendation for PGT-M (ranking1)
A*B AA Informative Partially No Partially The wild-type allele is a unique allele, therefore unaffected embryos are heterozygous and can be distinguished Preferred marker (1)
AB* BB
AB* AA Informative Partially No Partially The mutant allele is a unique allele therefore unaffected embryos are homozygous; therefore, it is uncertain whether both paternal and maternal alleles are present Usable marker (2)
A*B BB
A*B or AB* AB Non-informative No No No The marker yields very limited information (to be used in combination with other markers) Usable marker (3)
AA or BB Any genotype Non-informative - - - No information Not recommended

1The utility of the markers is ranked from very good (1) to very low (3)

The pathogenic allele is indicated with *after validation of segregation with a suitable reference.