Laboratory diagnosis for human chimerism: systematic review




Chimerism; Polymerase Chain Reaction; Systematic Review.


The objective of the article was to perform a systematic review of the literature on laboratory diagnosis for human chimerism. The Medical Literature Analysis and Retrieval System Online (Medline), Public Medline or Publisher Medline (PubMed), Scientific Electronic Library (Scielo), Latin American and Caribbean Literature on Health Sciences (LILACS) databases were searched according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology. Articles were included that had as an endpoint evidencing the diagnosis for chimerism in humans, published in the period from 2005 to 2018. Articles whose endpoint was the occurrence of other types of chimerism were excluded. To compose the study, 36 articles were pre-selected, of these only 6 met the inclusion criteria given by the PRISMA method. Regarding the diagnostics used in the articles to detect chimerism, in 100% of the articles there is reference to the Polymerase Chain Reaction (PCR) combined with other techniques as the main diagnostic for detection of chimerism, such as Fluorescent in situ hybridization (FISH), Short Tandem Repeats (STR), Single Nucleotide Polymorphisms (SNPs), Small Insertions and Deletions (INDELs), Single Molecular Inversion Molecular Probes (smMIP) and TaqMan type molecular probes. These combined techniques have many advantages and are decisive for the scientific community in revealing this genetic condition. Thus, it is concluded that there are few techniques that allow a specific diagnosis for chimerism, however, the existing techniques are effective in identifying this genetic condition.


Ahci, M., Stempelmann, K., Buttkereit, U., Crivello, P., Trilling, M., Heinold, A., Steckel, N. K., Koldehoff, M., Horn, P. A., Beelen, D. W. & Fleischhauer, K. (2017). Clinical Utility of Quantitative PCR for Chimerism and Engraftment Monitoring after Allogeneic Stem Cell Transplantation for Hematologic Malignancies. Biology of Blood and Marrow Transplantation, 23, 1658–1668.

Aloisio, M., Bortot, B., Gandin, I., Severini, G. M. & Athanasakis, E. (2017). A semi-nested real-time PCR method to detect low chimerism percentage in small quantity of hematopoietic stem cell transplant DNA samples. Genome, 60, 183–192.

Caetano, A. R. (2009). Marcadores SNP: conceitos básicos, aplicações no manejo e no melhoramento animal e perspectivas para o futuro. Revista Brasileira de Zootecnia, 38, 64–71.

Clemente, I., Goncalo, A., Faria, C., Dias, M., Barbosa, I. & Mendes, C. (2017). Relevance of Chimerism Analysis After Allogeneic Stem Cell Transplantation. Transplantation Proceedings, 49, 890–892.

Dubois, V., Alizadeh, M., Bourhis, J. H., Etancelin, P., Farchi, O., Ferrand, C., Goursaud, L., Mollet, I., Renac, V., Varlet, P., Yakoub-Agha, I. & Bay, J. (2017). Étude du chimérisme après allogreffe de cellules hématopoïétiques: recommandations de la Société francophone de greffe de moelle et de thérapie cellulaire (SFGM-TC). Bulletin du Cancer, 104, 59–64.

Granzen, R. R. (2014). The Human Chimera: Legal problems arising from individuals with various types of DNA. Law School Student Scholarship, 5, 1-27.

Jiménez, I. A., Suarez, W. C., Centeno, E. H., Arenas, A. & Mena, D. R. (2015). Implicaciones médico legales del quimerismo. Med. Leg. Costa Rica, 32, 1-7.

Johnson, B. N., Ehli, E. A., Davies, G. E. & Boomsma, D. I. (2020). Chimerism in health and potential implications on behavior: A systematic review. J. Med. Genet., 182, 1513–1529.

Koehne, T., Köhn, A., Friedrich, R. E., Kordes, U., Schinke, T. & Muschol, N. et al. (2017). Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study. Clinical Oral Investigations, 22, 1541–1549.

Kricke, S., Mhaldien, L., Fernandes, R., Villanueva, C., Shaw, A. & Veys, P. et al. (2018). Chimerism Analysis in the Pediatric Setting. The Journal of Molecular Diagnostics, 20, 381–388.

Kristt, D., Israeli, M., Narinski, R., Or, H., Yaniv, I. & Stein, J. et al. (2005). Hematopoietic chimerism monitoring based on STRs: quantitative platform performance on sequential samples. J. Biomol Tech¸16, 378-389.

Loriaux, A., Boulet, S., Delorme, V., Althuser, M., Giroud Lathuile, C. & Grego, S. et al. (2011). Chimérisme tétragamétique: à propos d’un cas. Journal de Gynécologie Obstétrique et Biologie de la Reproduction, 40, 77–80.

Norton, A. T. & Zehner, O. (2008). Which Half is Mommy?: Tetragametic Chimerism and Trans-Subjectivity. WSQ: Women’s Studies Quarterly, 36, 106–125.

Oura, T., Hotta, K., Cosimi, A. B. & Kawai, T. (2015). Transient mixed chimerism for allograft tolerance. Chimerism, 6, 21–26.

Pagotto, V., Bachion, M. M. & Silveira, E. A. (2013). Autoavaliação da saúde por idosos brasileiros: Revisão sistemática da literatura. Rev. Panam. Salud Publica, 33, 302-10.

Ramos, A.V. G. F. & Cunha L. R. B. (2016). Another Me: The case of the human chimeras. Rev. Bio y Der., 38, 101-117.

Reda, S. Y. & Martins, L. M. (2013). The differential diagnosis of inflammatory joint disease in maternal-fetal microchimerism. J. Bras. Patol. Med. Lab., 49, 406-409.

Santurtún, A., Riancho, J. A., Santurtún, M., Richard, C., Colorado, M. M. & García et al. (2017). Genetic DNA profile in urine and hair follicles from patients who have undergone allogeneic hematopoietic stem cell transplantation. Science & Justice, 57, 336–340.

Sheets, K. M., Baird, M. L., Heinig, J., Davis, D., Sabatini, M. & Starr, D.B. (2017). A case of chimerism-induced paternity confusion: what ART practitioners can do to prevent future calamity for families. Journal of Assisted Reproduction and Genetics, 35, 345–352.

Thompson, P. A., Stingo, F., Keating, M. J., Wierda, W.G., O’Brien, S. M. & Estrov, Z. et al. (2017). Long-term follow-up of patients receiving allogeneic stem cell transplant for chronic lymphocytic leukaemia: mixed T-cell chimerism is associated with high relapse risk and inferior survival. British Journal of Haematology, 177, 567–577.

Tozzo, P., Delicati, A., Zambello, R. & Caenazzo, L. (2021). Chimerism Monitoring Techniques after Hematopoietic Stem Cell Transplantation: An Overview of the Last 15 Years of Innovations. Diagnostics, 11, 621.

Uysal, N.Ş., Gülümser, Ç., Çelik, Z. Y., Zeyneloğlu, H. B. & Yanık, F. F. B. (2017). Fetal sex discordance in a monochorionic twin pregnancy following intracytoplasmic sperm injection: A case report of chimerism and review of the literature. Journal of Obstetrics and Gynaecology Research 44, 576–582.

Wu, D., Waalkes, A., Penewit, K. & Salipante, S. J. (2018). Ultrasensitive Detection of Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms. Clinical Chemistry, 64, 938–949.

Yu, Q., Li, Q., Gao, S., Su, Y. & Deng, Z., 2011. Congenital Tetragametic Blood Chimerism Explains a Case of Questionable Paternity*. Journal of Forensic Sciences, 56, 1346–1348.

Yunis, E. J., Zuniga, J., Romero, V. & Yunis, E. J. (2007). Chimerism and tetragametic chimerism in humans: implications in autoimmunity, allorecognition and tolerance. Immunol. Res., 38, 213-236.




How to Cite

WEBER, D. M. .; ROCHA, M. J. da .; NOGUEIRA, A. C. .; TEIXEIRA, A. F. de M. .; BONFIM, M. P. .; ROSA, J. M. C. .; CRUZ, M. V. B. da . Laboratory diagnosis for human chimerism: systematic review. Research, Society and Development, [S. l.], v. 11, n. 10, p. e162111032728, 2022. DOI: 10.33448/rsd-v11i10.32728. Disponível em: Acesso em: 4 oct. 2022.



Review Article