Genomic analysis of ABO chimeras and mosaics using hematopoietic colony-derived DNA.
BACKGROUND
While there are many case reports dealing with ABO mosaicism and chimerism, there have been few attempts to determine the patient's genotype.


METHODS
Peripheral blood and buccal mucosa were obtained from three persons with ABO mosaicism or chimerism. DNA extracted from hematopoietic progenitor cell-derived colonies and from peripheral blood and buccal mucosa were analyzed by polymerase chain reaction-restriction fragment length polymorphism methods. In addition, analyses of short tandem repeat markers were carried out.


RESULTS
Hematopoietic progenitor cell-derived DNA analysis revealed that, in two of the three persons there were 2 apparently distinct progenitor cell lineages whose percentages were close to those in the peripheral blood of the patients, as analyzed by flow cytometry; the exception was Subject 3, who had myelodysplastic syndrome (MDS). Short tandem repeat analysis showed that the former two subjects had two pairs of ABO alleles and the latter subject, with MDS, had loss of heterozygosity in some colony-derived DNA as well as blood DNA.


CONCLUSIONS
The subjects without MDS had two distinct hematopoietic cell lineages that led to their ABO chimeric status. The subject with MDS was assumed to have an ABO mosaicism caused by the somatic deletion of the ABO gene in the hematopoietic progenitor cells.
Anan
K
K
Department of Laboratory and Transfusion Medicine, National Defense Medical College, Saitama, Japan. GEC02320@nifty.ne.jp
Suzuki
H
H
Iwasaki
M
M
Kobayashi
K
K
D000017:ABO Blood-Group System / Q000235:genetics*; D000368:Aged; D002678:Chimera; D004247:DNA / Q000097:blood*; D004912:Erythrocytes / Q000166:cytology; D005434:Flow Cytometry; D005838:Genotype; D006412:Hematopoietic Stem Cells / Q000737:chemistry*; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics; D009030:Mosaicism; D009061:Mouth Mucosa / Q000737:chemistry; D009190:Myelodysplastic Syndromes / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D000017:ABO Blood-Group System; D004247:DNA