HLA-DRB4 gene encoded HLA-DR53 specificity segregating with the HLA-DR7, -DQ9 haplotype: unusual association.
HLA phenotyping of a leukemia patient of Caucasoid origin revealed the presence of the serological HLA-DR53 specificity. Comprehensive pedigree analysis demonstrated that the HLA-DR53 specificity segregated with the HLA-DR7, -DQ3 haplotype. High resolution PCR- SSP genotyping of the HLA class II genes revealed the presence of the HLA-DRB4*0101101 allele segregating together with the HLA-DRB1*0701, -DQA1*0201 and DQB1*03032 alleles. This finding is in contrast to known linkages in that thus far, the HLA-DR7, -DQ9 haplotype has only been described in association with the non-expressed HLA-DRB4*0103102N allele. The existence of this "novel" haplotype may be explained by a homologous recombinational event that occurred between the HLA-DR7, -DR53, -DQ2 and the HLA-DR7, -DQ9 haplotypes.
Lardy
N M
NM
Department of HLA Diagnostics, Central Laboratory of the Dutch Red Cross Blood Transfusion Service, The Netherlands.
van der Horst
A R
AR
van de Weerd
M J
MJ
de Waal
L P
LP
Bontrop
R E
RE
D005260:Female; D006683:HLA-DQ Antigens / Q000235:genetics*; D006684:HLA-DR Antigens / Q000235:genetics*; D015809:HLA-DR7 Antigen / Q000235:genetics*; D059845:HLA-DRB4 Chains; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction
D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; C050610:HLA-DR53; D015809:HLA-DR7 Antigen; D059845:HLA-DRB4 Chains