Gene organization and rearrangements at the human Rhesus blood group locusrevealed by fiber-FISH analysis

Citation
Y. Suto et al., Gene organization and rearrangements at the human Rhesus blood group locusrevealed by fiber-FISH analysis, HUM GENET, 106(2), 2000, pp. 164-171
Citations number
36
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
0340-6717 → ACNP
Volume
106
Issue
2
Year of publication
2000
Pages
164 - 171
Database
ISI
SICI code
0340-6717(200002)106:2<164:GOARAT>2.0.ZU;2-K
Abstract
The human Rhesus (Rh) blood group locus is composed of two highly homologou s genes, the RHD and RI-ICE genes on chromosome I, encoding the D, C/c, and E/e antigens in common Rh-positive phenotypes. In general, the RND gene is either absent or grossly deleted in Rh-negative individuals. In this study , gene organization at the RH locus of Japanese donors with different serol ogical phenotypes was directly analyzed by two-color fluorescence in situ h ybridization on DNA fibers released from their lymphocytes (fiber-FISH) and by using DNA probes of introns 3 and 7 of the RHCE and RHD genes. Six Rh-p ositive samples (two with the D+C-c+E+e-, two with the D+C+c-E-e+, and two with the D+C+c+E+e+ phenotype) showed the presence of two REI genes within a region of less than 200 kb on chromosome 1p36.1. Of great interest was th e finding that the genes were arranged in the antidromic order of the telom ere - RHCE (5'-->3') - RHD (3'-->5') - centromere. On the other hand, two t ypical Rh-negative samples (D-C-c+E+e+) showed the presence of only one RHC E gene, as expected. Moreover, further analysis combined with a locus-speci fic assay of three Rh-negative samples (D-C+c+E+e+, D-C+c+E-e+, and D-C+c-E -e+) showed the possible presence of the RND gene(s) and complex rearrangem ents, including partial deletion, duplication, and recombination, in this r egion; these could be responsible for the Rh-negative phenotype.