J Korean Med Sci.  2007 Jun;22(3):553-556. 10.3346/jkms.2007.22.3.553.

A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype

• Cho D
• Lee SK
• Yazer MH
• Shin MG
• Shin JH
• Suh SP
• Song JW
• Jeon MJ
• Kim JY
• Park JT
• Ryang DW

• KMID: 1778370
• DOI: http://doi.org/10.3346/jkms.2007.22.3.553

Abstract

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.

Keyword

Chimerism; ABO Blood Type; Mosaicism; XYY Karyotype

MeSH Terms

ABO Blood-Group System
Adult
Alleles
Blood Grouping and Crossmatching
Chimera
Chimerism
Chromosome Disorders/*diagnosis/*genetics
Genotype
Humans
Karyotyping
Korea
Male
Phenotype
Sequence Analysis, DNA
*XYY Karyotype

Figure

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  Fig. 1 Monoclonal gel card demonstrating the mixed field agglutination (arrows) presents on the propositus' cell typing. A mixed field agglutination pattern was observed with anti-B indicating the simultaneous presence of two red blood cell populations.

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  Fig. 2 The nucleotide sequence surrounding nucleotide 796 and 803 (arrows and larger font letters) in ABO exon 7. The letters above each peak indicate the nucleotide residue present. Residues 796 and 803 are amongst those that discriminate common O alleles from B alleles (see text for details) and the results reported here are representative of those seen at the other discriminating residues. The top chromatogram was produced by routine ABO sequencing and demonstrates the presence of O-allele specific nucleotides at residues 796 and 803 (tall peaks), along with very small B-allele specific nucleotide peaks. The latter B-allele specific peaks are not sufficiently tall to definitively indicate the presence of a B allele. The bottom chromatogram is obtained from post-cloning and sequencing reactions, and conclusively demonstrates the presence of B-allele specific nucleotides. By cloning and sequencing exons 6 and 7 from the propositus, B-allele specific nucleotides were identified at the other polymorphic residues that discriminate O from B alleles; thus a normal B101 allele was identified along with two common O alleles.

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  Fig. 3 Short tandem repeat analysis in the propositus (P), father (F), and mother (M) from peripheral blood DNA. The fragment size is indicated below each peak. A double paternal DNA contribution (fragments 10 & 12 in D5S818, and fragments 12 & 14 in D13S317) is readily apparent in the propositus, while only a single maternal DNA contribution is detectable. Similar results were found in DNA isolated from the propositus' buccal swabs and hair cells indicating full body dispermic chimerism.

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