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.

A Comparison Study of Metaphase Analysis of Chromosomal Aberration and Flow Cytometric Assessment of Radiation- induced Apoptosis in Human Peripheral Lymphocytes / 대한핵의학회잡지

PURPOSE: Radiation-induced chromosomal damage and apoptosis were compared in human lymphocytes. MATERIALS AND METHODS: Peripheral lymphocytes from 10 normal volunteers (6 males, 4 females, age range 23~41 years) were irradiated by gamma rays from a cell irradiator. Doses of irradiation were 0 (control), 0.18, 2, 5, 10, 20 and 25 Gy. Irradiated lymphocytes were examined by metaphase analysis for chromosomal aberrations and by flow cytometry for apoptosis. RESULTS of both studies were compared according to dose. RESULTS: Number of dicentric and ring chromosomes (D+R) was 0.5+/-0.53 at baseline, which was significantly increased after radiation according to the dose. The fraction of cells showing annexin V-fluore-scein isothiocyanate uptake was 0.55+/-0.39%, which increased to 3.58+/-1.85% by 2 Gy irradiation, and then decreased. The fraction of cells showing propidium iodide (PI) uptake was 0.52+/-0.12%, which significantly increased according to dose (upto 15.64+/-5.99% by 20 Gy irradiation). D+R and PI uptake were well correlated (r=0.84, p<0.001). CONCLUSION: Radiation-induced chromosomal aberration was correlated to nuclear uptake of PI, a marker of late apoptosis.