PMID- 9233560
OWN - NLM
STAT- MEDLINE
DCOM- 19970903
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 98
IP  - 1
DP  - 1997 Jul
TI  - Heterogenous band 3 deficiency in hereditary spherocytosis related to different 
      band 3 gene defects.
PG  - 32-40
AB  - Among 80 hereditary spherocytosis (HS) kindreds studied using denaturing 
      electrophoretic separation of solubilized eythrocyte membrane proteins, we 
      recognized three prominent subsets: HS with isolated spectrin deficiency, HS with 
      combined spectrin and ankyrin deficiency, and HS with band 3 deficiency These 
      three subsets represent more than 80% of the HS kindreds studied. In this study, 
      eight dominant HS kindreds with band 3 deficiency were investigated for band 3 
      mutations. In three of these kindreds, linkage analyses confirmed the band 3 gene 
      as the culprit gene. In an attempt to identify the responsible mutations, 
      denaturing gradient gel electrophoresis (DGGE) was used to explore the coding 
      exons (exons 2-20) of band 3 gene. Five different mutations were found in the 
      eight kindreds. In five kindreds we identified substitutions of highly conserved 
      residues, positioned at boundaries of putative transmembrane segments: a C --> T 
      substitution at codon 490 changed arginine (CGC) to cysteine (TGC) in three 
      kindreds, a C --> T substitution at codon 837 changed threonine (ACG) to 
      methionine (ATG) in two kindreds. In the sixth kindred a G deletion was found in 
      a stretch of five G starting at position 1475, leading to a stop codon either at 
      position 1527 or 1565. In the seventh kindred a T deletion at position 1600 
      resulted in a stop codon at position 1733 and in the last kindred a T deletion 
      was identified at position 355, leading to a stop codon at position 447. The 
      mutant transcript was present in HS patients bearing missense mutations, whereas 
      only the normal transcript was found in HS patients with frameshift mutations. In 
      the latter group the mean decrease in membrane band 3 content was significantly 
      lower, leading to speculation that missense mutations may have some sort of 
      dominant negative effect.
FAU - Dhermy, D
AU  - Dhermy D
AD  - INSERM U409, Centre Claude Bernard, Faculte X. Bichat, Paris, France.
FAU - Galand, C
AU  - Galand C
FAU - Bournier, O
AU  - Bournier O
FAU - Boulanger, L
AU  - Boulanger L
FAU - Cynober, T
AU  - Cynober T
FAU - Schismanoff, P O
AU  - Schismanoff PO
FAU - Bursaux, E
AU  - Bursaux E
FAU - Tchernia, G
AU  - Tchernia G
FAU - Boivin, P
AU  - Boivin P
FAU - Garbarz, M
AU  - Garbarz M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 0 (Anion Exchange Protein 1, Erythrocyte)
SB  - IM
EIN - Br J Haematol 1997 Nov;99(2):474
MH  - Adolescent
MH  - Anion Exchange Protein 1, Erythrocyte/*genetics
MH  - Electrophoresis
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats
MH  - *Mutation
MH  - Pedigree
MH  - Spherocytosis, Hereditary/*genetics
EDAT- 1997/07/01 00:00
MHDA- 1997/07/01 00:01
CRDT- 1997/07/01 00:00
PHST- 1997/07/01 00:00 [pubmed]
PHST- 1997/07/01 00:01 [medline]
PHST- 1997/07/01 00:00 [entrez]
AID - 10.1046/j.1365-2141.1997.1893005.x [doi]
PST - ppublish
SO  - Br J Haematol. 1997 Jul;98(1):32-40. doi: 10.1046/j.1365-2141.1997.1893005.x.