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Chimerism detection by short tandem repeat analysis when donor and recipient genotypes are not known

Abstract: Backgrounds: The analysis of chimerism after bone marrow transplantation by STR-PCR is frequently carried out with commercial kits designed for forensic purposes and including too many non informative STR. Furthermore, in routine clinical practice it is not uncommon to lack the pre-transplant genotype of the recipient or the donor, thus making it difficult to identify both components in the post-transplant genotype. The objective of this paper is to overcome these drawbacks by analyzing the informativity of STR markers from a perspective which can be applied whether the pretransplant genotypes are available or not, and selecting a minimum STR panel that allows an effective direct detection of chimerism. Methods: DNA extraction, STR-PCR and fragment analysis of 15 STR in 90 donor-recipient pairs, 60 of which were part of the discovery set and 30 in a validation set. Loci were considered as informative when there were 3 or 4 different alleles in the combined genotypes of the recipient and the donor. Results: The informativity varied between 41.6 and 76.6. The 4 most informative loci were D2S1338, D21S11, D18S51 and FGA. We could select a minimum set of 8 markers (D2S1338, D21S11, D18S51, FGA, VWA, D19S433, TH01 and D3S1358) that provided at least 3 informative loci in 95% of cases. Conclusion: This minimum STR panel may be an efficient way to detect and quantitate donor-recipient chimerism after transplantation.

 Autoría: Odriozola A., Riancho J., Mijares V., Nuñez-Cespedes J., Zarrabeitia M.,

 Fuente: Clinica Chimica Acta, 2012, 413(5-6), 548-551

 Editorial: Elsevier

 Año de publicación: 2012

 Tipo de publicación: Artículo de Revista

 DOI: 10.1016/j.cca.2011.11.022

 ISSN: 0009-8981,1873-3492

 Url de la publicación: https://doi.org/10.1016/j.cca.2011.11.022

Autoría

ADRIAN ODRIOZOLA MARTINEZ

VERONICA MIJARES DIAZ

NUÑEZ-CESPEDES, J.

MARIA TERESA ZARRABEITIA CIMIANO