title: A dispermic chimerism detected in a Taiwanese potential unrelated hematopoietic stem cell donor.
abstract: Chimerism is defined as the presence of 2 or more than 1 genetically distinct cell populations in an organism. Dispermic chimeras are derived from the fertilization of 1 or 2 matured nuclei by 2 sperms. We here report detection of a healthy and phenotypically normal female with normal ABO red blood cell typing in whom dispermic chimerism was suspected after 3 alleles were identified at multiple human leukocyte antigen (HLA) loci using molecular HLA analysis. Molecular HLA typing showed the donor to have 3 HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 alleles in blood, saliva and nail samples. In addition, 3 of her 9 short tandem repeat loci also showed to have 3 distinct alleles in blood, nail and saliva specimens. In all investigations, the third alleles were attributed to a dual paternal contribution. This case represents a dispermic chimerism, with 2 paternal and 1 maternal haplotypes variably distributed throughout body tissues in a healthy and phenotypically normal female without abnormalities in erythrocyte ABO blood group. The origin of this chimerism is probably due to the fertilization of a single egg and its polar body, or a parthenogenetic egg, by 2 sperms.
authors.affiliation: Laboratory of Immunogenetics, Tzu Chi Cord Blood Bank, and Buddhist Tzu Chi Bone Marrow Donor Registry, Buddhist Tzu Chi Stem Cells Centre, Hualien Tzu Chi Hospital, Hualien, Taiwan.|Department of Laboratory Medicine, Buddhist Tzu Chi University, Hualien, Taiwan.
authors.forename: E K L
authors.identifier: 0000-0001-7440-2318
authors.initials: EK
authors.lastname: Yang
authors.affiliation: Anthony Nolan Research Institute and UCL Cancer Institute, The Royal Free Campus, London, UK.
authors.forename: S G E
authors.identifier: 0000-0003-2855-4120
authors.initials: SG
authors.lastname: Marsh
authors.affiliation: Center of Medical Genetics, Hualien Tzu Chi Hospital, Hualien, Taiwan.
authors.forename: P-Y
authors.initials: PY
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: C-P
authors.initials: CP
authors.lastname: Chen
authors.affiliation: Laboratory of Immunogenetics, Tzu Chi Cord Blood Bank, and Buddhist Tzu Chi Bone Marrow Donor Registry, Buddhist Tzu Chi Stem Cells Centre, Hualien Tzu Chi Hospital, Hualien, Taiwan.
authors.forename: S-P
authors.initials: SP
authors.lastname: Chen
authors.affiliation: Laboratory of Immunogenetics, Tzu Chi Cord Blood Bank, and Buddhist Tzu Chi Bone Marrow Donor Registry, Buddhist Tzu Chi Stem Cells Centre, Hualien Tzu Chi Hospital, Hualien, Taiwan.
authors.forename: P Y
authors.initials: PY
authors.lastname: Lin
mesh_terms: D000017:ABO Blood-Group System / Q000097:blood / Q000235:genetics / Q000276:immunology; D000328:Adult; D000483:Alleles; D046528:Chimerism; D005260:Female; D015870:Gene Expression; D005838:Genotype; D015234:HLA-A Antigens / Q000097:blood / Q000235:genetics / Q000276:immunology; D015235:HLA-B Antigens / Q000097:blood / Q000235:genetics / Q000276:immunology; D015236:HLA-C Antigens / Q000097:blood / Q000235:genetics / Q000276:immunology; D059868:HLA-DP beta-Chains / Q000097:blood / Q000235:genetics / Q000276:immunology; D059866:HLA-DQ beta-Chains / Q000097:blood / Q000235:genetics / Q000276:immunology; D059811:HLA-DRB1 Chains / Q000097:blood / Q000235:genetics / Q000276:immunology; D064368:Healthy Volunteers; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D040582:Inheritance Patterns; D018895:Microsatellite Repeats; D009262:Nails / Q000737:chemistry; D010375:Pedigree; D012463:Saliva / Q000737:chemistry; D013624:Taiwan; D061349:Unrelated Donors
chemical_list: D000017:ABO Blood-Group System; D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D059811:HLA-DRB1 Chains
keywords: chimerism; hematopoietic stem cell donors; human leukocyte antigen; sequence-based typing; short tandem repeat