Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1

Citation
O. Miyoshi et al., Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1, AM J MED G, 104(3), 2001, pp. 250-256
Citations number
24
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
104
Issue
3
Year of publication
2001
Pages
250 - 256
Database
ISI
SICI code
0148-7299(200112)104:3<250:TCOMRB>2.0.ZU;2-4
Abstract
We encountered a 22-year-old man (case 1) and a 23-year-old woman (case 2), both un elated and healthy. They were mosaic for the Rh blood group phenot ype: one erythrocyte population was D-positive and the other was D-negative . Flow cytometric analysis of density profile of RhD antigen in their eryth rocytes, and cytogenetic analysis including in situ hybridization using an RHD/RHCE-containing PAC clone, excluded a deletion of the RHD/RHCE gene com plex, but suggested the presence of cells with uniparental disomy for chrom osome 1 (UPD1). Microsatellite marker analysis was performed in both proban ds and their family members. In case 1, the analysis with markers spanning the chromosome 1 revealed both maternal and paternal alleles in his periphe ral blood leukocytes (PBL), Epstein-Barr virus-transformed lymphoblastoid c ells (EBL), and buccal mucosal cells. However, only paternal alleles were d etected in all of 50 individual pieces of his hair or hair-roots and all of five mono-clonal cell lines cloned from his established EBL. There was no direct evidence of heterozygous, biparental alleles in these two tissues. T he presence of maternal isodisomy 1 was not absolutely ruled out in other t issues examined in case 1. Similar results were obtained in case 2, showing biparental, disomic patterns in her PBL and in 15 of 20 pieces of her hair roots, and showing mono-allelic patterns in the remaining five pieces of h air roots. Analysis with markers for other autosomes confirmed their bipare ntal inheritance. These findings indicated that both cases had at least two cell populations, one population having paternal UPD1 (isodisomy 1), and a nother heterozygous, biparental disomy 1. We emphasize that isodisomy for c hromosome 1 is not infrequent and may cause unusual RhD phenotype, as seen in cases we described. (C) 2001 Wfley-Liss, Inc.