Chimerism quantification after sex-matched BMT: how probable is it to find donor/recipient pairs with distinguishable cells?

Chimerism quantification (CQ) after sex-matched bone marrow transplantation (BMT) is based on the identification of autosomal differences distinguishable at the chromosomal level, such as variations within constitutive heterochromatin between the recipient and the donor. The probability of finding distinguishable recipient/donor pairs at the karyotypic level depends on the frequency of the chromosome variants or morphs in the population, on whether recipient and donor are related, and if so, their kinship relation. We have developed a population genetics-based method that allows the estimation of the percentage of post-BMT CQ expected to be informative using any autosomal polymorphic marker. This method has been developed for the most common transplant situations, such as sibling-matched recipient/donor pairs, haploidentical related (parental/filial) pairs, and unrelated pairs. The method developed was applied to a polymorphism of the pericentromeric region of chromosome 3. This polymorphism becomes evident after in situ digestion with the restriction endonuclease Sau3A, and can be successfully used for CQ. It has been estimated that approximately 59% of the cases of BMT from unrelated donors, 36% of those from sibling donors, and 42% from parental/filial donors, are expected to be distinguishable for post-BMT CQ using this approach.