Naslov
High resolution definition of HLA-DRB haplotypes by a simplified microsatellite typing technique

Autori
Doxiadis, G. ; de Groot, N. ; Dauber, E.M. ; van Eede, P.H. ; Fae, I. ; Faner, R. ; Fischer, G. ; Grubić, Zorana ; Lardy, N.M. ; Mayr, W. ; Palou, E. ; Swelsen, W. ; Štingl, Katarina ; Doxiadis, I. ; Bontrop, R.

Izvornik
Tissue antigens (0001-2815) 74 (2009), 6; 486-493

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
DR; haplotypes; MHC; microsatellite

Sažetak
In humans, the region configurations DR1, DR8, DR51, DR52 and DR53 are known to display copy number as well as allelic variation, rendering high resolution typing of HLA-DRB haplotypes cumbersome. Advantage was taken of microsatellite D6S2878, present in all DRB genes/pseudogenes with an intact exon 2-intron 2 segment. This DRB-STR is highly polymorphic in composition and length. Recently, it was proven that all exon 2 sequences could be linked to a certain DRB-STR that segregates with the respective DRB allele. Because haplotypes show differential copy numbers and compositions of exon 2- positive DRB genes/pseudogenes, unique DRB-STR patterns could be described that appear to be specific for a particular DRB haplotype. The aim of this workshop project was to approve and to qualify this simple typing protocol in a larger panel covering different European populations. All participants succeeded in correctly defining the DRB-STR amplicons varying from 135 to 222 base pair (bp) lengths. The panel of 101 samples covered 50 DRB alleles distributed over 37 different haplotypes as defined by exon 2 sequence-based typing. These haplotypes could be refined into 105 haplotypes by DRB-STR typing. Thus, discrimination of exon 2-identical DRB alleles was feasible, as well as the exact description of three different crossing-over events that resulted in the generation of hybrid DR region configurations. This typing procedure appears to be a quick and highly robust technique that can easily be performed by different laboratories, even without experience in microsatellite typing ; thus, it is suitable for a variety of researchers in diverse research areas.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA