Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case |
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| Affiliation: | 1. Department of Neonatology, Anhui Provincial Children''s Hospital/Children''s Hospital Affiliated to Anhui Medical University, Hefei, China;2. Department of Radiology, Anhui Provincial Children''s Hospital, Hefei, China;3. School of Basic Medical Sciences, Anhui Medical University, Hefei, China;4. School of Life Sciences, University of Science and Technology of China, Hefei, China;5. Department of Radiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China;1. Gazi University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey;2. Dr. Sami Ulus Maternity and Children''s Training and Research Hospital, Department of Medical Genetics, Ankara, Turkey;1. Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, 9112001, Israel;2. Department of Genetics, Hadassah Medical Organization, Jerusalem, 9112001, Israel;1. Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands;2. Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands;3. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands;4. Baco Institute of Protein Science, Baco, 5201 Mindoro, Philippines;5. Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK;6. Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA;1. Department of Obstetrics & Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands;2. Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands;3. Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, the Netherlands;4. Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands;1. Department of Dental Anesthesiology, Tokyo Dental College, Tokyo, Japan;2. Department of Pharmacology, Tokyo Dental College, Tokyo, Japan;3. Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan;4. Center for Regenerative Medicine, National Center for Child Health and Development Research Institute, Tokyo, Japan |
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| Abstract: | Chimerism is a condition when an organism is composed of two or more populations of genetically distinct cells. Chimerism often produces curious results of medical and genetic investigations and could be a major cause of false negative conclusions in parentage testing. Here we describe a paternity pseudo-exclusion due to tetragametic chimerism in a gestational surrogacy case originated in a fertility clinic. Initial analysis using a buccal swab from the child and a peripheral blood sample from the father showed paternity exclusion at 6 STR loci. To find out the reason for observed paternal discrepancy father's semen sample used for IVF and samples from other tissues were genotyped. Buccal swabs, semen, hair follicles, nail clippings and cerumen showed identical mixed autosomal STR profiles originated from two genetically different cell lines and for all the 24 informative loci contain paternal obligate alleles. Results of Y-STR profiling of all paternal sample types showed a DNA profile originated from a single man. The mixed profiles obtained for different tissue types suggest that two genetically different cell lines contributed to formation of both the endoderm and the ectoderm of the father. The mesoderm seems to be monoclonal having originated from a genetically homogenous cell line as evidenced by the STR profile of peripheral blood. Such allelic pattern for various tissues suggests that the clonal origin happened at the very early stage of embryonic development. Approaches to minimise the rate of false exclusions in DNA parentage tests due to chimerism are discussed. |
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| Keywords: | Congenital chimera Tetragametic chimerism Assisted reproductive technology surrogacy Paternity testing False parentage exclusion |
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