PMID- 17384941
OWN - NLM
STAT- MEDLINE
DCOM- 20070730
LR  - 20181113
IS  - 0093-7711 (Print)
IS  - 0093-7711 (Linking)
VI  - 59
IP  - 6
DP  - 2007 Jun
TI  - Description of the first HLA-DRB1 null allele.
PG  - 507-10
AB  - We, in this paper, describe the identification of the novel human leukocyte 
      antigen (HLA) blank allele DRB1*0710N that was detected in a male individual of 
      Caucasian origin. The complete HLA class I typing was A*01, A*02, B*18, B*44, 
      DRB1*0710N, DRB1*11, DQB1*02, and DQB1*03. Compared to DRB1*070101, the new 
      variant is characterized by two consecutive nucleotide deletions at positions 175 
      and 176 of exon 2, leading to a frame shift that results in a stop codon (TAA), 6 
      bp further downstream. We identified three different possibilities as to which 
      nucleotides were deleted to result in this non-expressed DRB1 allele. To verify 
      the non-expression of the gene, an Epstein-Barr virus (EBV)-transformed 
      B-lymphoblastoid cell line (B-LCL) of the individual was established and analyzed 
      by flow cytometry for the cell surface expression of HLA-DRB1*07. Despite this 
      non-expression of the cell surface protein, transcription of the DRB1*0710N 
      sequence into messenger RNA (mRNA) was demonstrated.
FAU - Eiz-Vesper, Britta
AU  - Eiz-Vesper B
AD  - Institute for Transfusion Medicine, Hannover Medical School, Hannover, Germany.
FAU - Blasczyk, Rainer
AU  - Blasczyk R
FAU - Horn, Peter A
AU  - Horn PA
LA  - eng
SI  - GENBANK/AJ968418
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20070324
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
SB  - IM
MH  - *Alleles
MH  - Cell Line, Transformed
MH  - Cell Line, Tumor
MH  - HLA-DR Antigens/biosynthesis/*genetics
MH  - HLA-DRB1 Chains
MH  - Herpesvirus 4, Human
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation
EDAT- 2007/03/27 09:00
MHDA- 2007/07/31 09:00
CRDT- 2007/03/27 09:00
PHST- 2007/01/19 00:00 [received]
PHST- 2007/03/01 00:00 [accepted]
PHST- 2007/03/27 09:00 [pubmed]
PHST- 2007/07/31 09:00 [medline]
PHST- 2007/03/27 09:00 [entrez]
AID - 10.1007/s00251-007-0211-0 [doi]
PST - ppublish
SO  - Immunogenetics. 2007 Jun;59(6):507-10. doi: 10.1007/s00251-007-0211-0. Epub 2007 
      Mar 24.