A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.
Chimerism in humans is a rare phenomenon often initially identified in the resolution of an ABO blood type discrepancy. We report a dispermic chimera who presented with mixed field in his B antigen typing that might have been mistaken for the B3 subtype. The propositus is a healthy Korean male blood donor. Neither his clinical history nor initial molecular investigation of his ABO gene explained his mixed field agglutination with murine anti-B. Chimerism was suspected, and 9 short tandem repeat (STR) loci were analyzed on DNA extracted from blood, buccal swabs, and hair from this donor and on DNA isolated from peripheral blood lymphocytes from his parents. The propositus' red blood cells demonstrated mixed field agglutination with anti-B. Exon 6 and 7 and flanking intronic regions of his ABO gene were sequenced and revealed an O01/O02 genotype. B allele haplotype-specific PCR, along with exon 6 and 7 cloning and sequencing demonstrated a third ABO allele, B101. Four STR loci demonstrated a pattern consistent with a double paternal chromosome contribution in the propositus, thus confirming chimerism. His karyotype revealed a mosaic pattern: 32/50 metaphases were 46,XY and 18/50 metaphases demonstrated 47,XYY.
Cho
Duck
D
Department of Laboratory Medicine, Chonnam National University Hospital & Medical School, 8 Hark-dong, Dong-gu, Gwangju, Korea.
Lee
Sang Ku
SK
Yazer
Mark Harris
MH
Shin
Myung Geun
MG
Shin
Jong Hee
JH
Suh
Soon Pal
SP
Song
Jeong Won
JW
Jeon
Mee Jeong
MJ
Kim
Ji Young
JY
Park
Jong Tae
JT
Ryang
Dong Wook
DW
D000017:ABO Blood-Group System; D000328:Adult; D000483:Alleles; D001788:Blood Grouping and Crossmatching; D002678:Chimera; D046528:Chimerism; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D007723:Korea; D008297:Male; D010641:Phenotype; D017422:Sequence Analysis, DNA; D014997:XYY Karyotype
D000017:ABO Blood-Group System