PMID- 12028543
OWN - NLM
STAT- MEDLINE
DCOM- 20021209
LR  - 20190826
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 59
IP  - 2
DP  - 2002 Feb
TI  - Non-expression of HLA-A*2901102 N is caused by a nucleotide exchange in the mRNA 
      splicing site at the beginning of intron 4.
PG  - 139-41
AB  - We describe the identification of the novel human leukocyte antigen (HLA) blank 
      allele A*2901102 N which was detected in an individual of mixed race. The 
      serological HLA class I typing was A1; B7,44 whereas PCR-SSP indicated the 
      presence of an additional A*29 allele. The pedigree analysis demonstrated that 
      the new blank allele segregated with the haplotype A*29null B*07, inherited from 
      the individual's Vietnamese father. A single G-->Tau transversion was detected at 
      position 1 of intron 4, which is a highly conserved nucleotide position in 
      vertebrate splice donor sites. Accordingly, it is very likely that this 
      nucleotide exchange inhibits the splicing of intron 4, resulting in a premature 
      stop codon further downstream. Despite this alteration, transcription into mRNA 
      was demonstrated.
FAU - Elsner, H-A
AU  - Elsner HA
AD  - Department of Transfusion Medicine, Hannover Medical School, Germany.
FAU - Bernard, G
AU  - Bernard G
FAU - Eiz-Vesper, B
AU  - Eiz-Vesper B
FAU - de Matteis, M
AU  - de Matteis M
FAU - Bernard, A
AU  - Bernard A
FAU - Blasczyk, Rainer
AU  - Blasczyk R
LA  - eng
SI  - GENBANK/AJ293507
SI  - GENBANK/AJ303359
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (HLA-A Antigens)
RN  - 0 (HLA-A29 antigen)
RN  - 0 (RNA Splice Sites)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Exons
MH  - HLA-A Antigens/*genetics/metabolism
MH  - Humans
MH  - *Introns
MH  - Molecular Sequence Data
MH  - *Point Mutation
MH  - *RNA Splice Sites
MH  - RNA Splicing
MH  - RNA, Messenger/*metabolism
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 2002/05/25 10:00
MHDA- 2002/12/10 04:00
CRDT- 2002/05/25 10:00
PHST- 2002/05/25 10:00 [pubmed]
PHST- 2002/12/10 04:00 [medline]
PHST- 2002/05/25 10:00 [entrez]
AID - tan590212 [pii]
AID - 10.1034/j.1399-0039.2002.590212.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2002 Feb;59(2):139-41. doi: 10.1034/j.1399-0039.2002.590212.x.