PMID- 10354388
OWN - NLM
STAT- MEDLINE
DCOM- 19990728
LR  - 20191210
IS  - 0958-7578 (Print)
IS  - 0958-7578 (Linking)
VI  - 9
IP  - 2
DP  - 1999 Jun
TI  - Glycophorin A mutation Ala65 --> Pro gives rise to a novel pair of MNS alleles
      ENEP (MNS39) and HAG (MNS41) and altered Wrb expression: direct evidence for
      GPA/band 3 interaction necessary for normal Wrb expression.
PG  - 167-74
AB  - We report here a novel Glycophorin A (GPA) mutation Ala65 --> Pro which gives
      rise to a low-incidence antigen HAG, lack of a high-incidence antigen ENEP and
      aberrant expression of the high-incidence Wrb antigen. Anti-ENEP was identified
      in the serum of a transfused male patient (E.H.) who was homozygous for a GPA
      Ala65 --> Pro mutation and possessed a novel low-incidence antigen which we have 
      called HAG. An unrelated HAG-positive individual, heterozygous for the Ala65 --> 
      Pro mutation, has also been identified. Anti-HAG was present in several
      multispecific antisera to low-incidence antigens and in one monospecific serum.
      Normal expression of the Wrb antigen depends on the presence of amino acid Glu658
      of band 3 and on the presence of GPA. However, a specific epitope on GPA has not 
      previously been implicated. DNA sequence analysis of band 3 from patient E.H. was
      normal in the region of Wra/Wrb polymorphism with homozygous presence of Glu658
      and therefore the abnormal Wrb expression results from the Ala65 --> Pro mutation
      in GPA. The ENEP and HAG antigens have been assigned the MNS blood group system
      numbers 002.039 and 002.041, respectively, by the ISBT Working Party on
      Terminology for Red Cell Surface Antigens.
FAU - Poole, J
AU  - Poole J
AD  - International Blood Group Reference Laboratory, Bristol, UK.
      joyce.pool@nbs.nhs.uk
FAU - Banks, J
AU  - Banks J
FAU - Bruce, L J
AU  - Bruce LJ
FAU - Ring, S M
AU  - Ring SM
FAU - Levene, C
AU  - Levene C
FAU - Stern, H
AU  - Stern H
FAU - Overbeeke, M A
AU  - Overbeeke MA
FAU - Tanner, M J
AU  - Tanner MJ
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Transfus Med
JT  - Transfusion medicine (Oxford, England)
JID - 9301182
RN  - 0 (Anion Exchange Protein 1, Erythrocyte)
RN  - 0 (Antigens)
RN  - 0 (Glycophorins)
RN  - 0 (MNSs Blood-Group System)
RN  - 9DLQ4CIU6V (Proline)
RN  - OF5P57N2ZX (Alanine)
SB  - IM
MH  - Alanine/*genetics
MH  - Alleles
MH  - Anion Exchange Protein 1, Erythrocyte/genetics
MH  - Antigens/blood/immunology
MH  - Coombs Test
MH  - Erythrocyte Membrane/immunology
MH  - Glycophorins/chemistry/*genetics
MH  - Humans
MH  - MNSs Blood-Group System/immunology
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Proline/*genetics
MH  - Protein Structure, Secondary
MH  - Sequence Analysis, DNA
EDAT- 1999/06/03 00:00
MHDA- 1999/06/03 00:01
CRDT- 1999/06/03 00:00
PHST- 1999/06/03 00:00 [pubmed]
PHST- 1999/06/03 00:01 [medline]
PHST- 1999/06/03 00:00 [entrez]
AID - tme185 [pii]
AID - 10.1046/j.1365-3148.1999.00185.x [doi]
PST - ppublish
SO  - Transfus Med. 1999 Jun;9(2):167-74. doi: 10.1046/j.1365-3148.1999.00185.x.