A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype
Journal of Korean Medical Science
; : 553-556, 2007.
Article
in En
| WPRIM
| ID: wpr-89789
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
/
XYY Karyotype
/
ABO Blood-Group System
/
Blood Grouping and Crossmatching
/
Chimera
/
Sequence Analysis, DNA
/
Chromosome Disorders
/
Chimerism
/
Alleles
/
Genotype
Type of study:
Prognostic_studies
Limits:
Adult
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Journal of Korean Medical Science
Year:
2007
Type:
Article