PMID- 15727250
OWN - NLM
STAT- MEDLINE
DCOM- 20050401
LR  - 20061115
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 8
IP  - 3
DP  - 2004 Fall
TI  - Fanconi anemia: contribution of molecular analyses to the identification of bone 
      marrow graft donors and the study of chimerism in grafted patients.
PG  - 268-75
AB  - We report on the effectiveness of molecular studies regarding Fanconi anemia (FA) 
      for a better selection of bone marrow graft donors and for post-transplant follow 
      up. Ten unrelated FA patients and their families were analyzed by microsatellite 
      markers. In 9 cases, the cytogenetic investigation of potential human leukocyte 
      antigen (HLA)-identical related donors was normal, and the molecular analyses 
      confirmed that they were also either normal or heterozygous carriers. For 1 
      patient, cytogenetic analysis of an HLA-identical sibling donor yielded ambiguous 
      results with a relatively high number of chromosomal breakages using 
      cross-linking agents. However, genotyping of this potential donor demonstrated 
      his heterozygous state. Nine patients have received allogeneic bone marrow 
      transplantation from HLA-matched related donors. Microsatellite analysis showed 
      complete chimerism (CC) in all cases. The median follow up was 54 months (range 
      8-144 months). One patient out of 9 with CC rejected her graft without prior 
      detection of a transitional mixed chimerism. Among these patients, 1 died 25 
      months after the transplantation of a chronic graft-versus-host-disease (GVHD). 
      We conclude that, when the cytogenetic studies are not conclusive, molecular 
      analyses are crucial to distinguish heterozygous carriers from asymptomatic FA 
      Tunisian patients. Molecular analyses also allowed the evaluation of 
      hematopoietic chimerism after allogeneic bone marrow transplantation and might be 
      of value to identify patients with a high risk for graft rejection.
FAU - Bouchlaka, Chiraz
AU  - Bouchlaka C
AD  - Laboratoire d'Immunologie, Vaccinologie et Genetique Moleculaire, Institut 
      Pasteur de Tunis, Tunisia.
FAU - Othman, Tarek Ben
AU  - Othman TB
FAU - Aissaoui, Lamia
AU  - Aissaoui L
FAU - Elloumi, Houda
AU  - Elloumi H
FAU - Elloumi, Moez
AU  - Elloumi M
FAU - Amouri, Ahlem
AU  - Amouri A
FAU - Abid, Hela Ben
AU  - Abid HB
FAU - Hadiji, Sondes
AU  - Hadiji S
FAU - Slama, Hmida
AU  - Slama H
FAU - Makni, Hafedh
AU  - Makni H
FAU - Saad, Ali
AU  - Saad A
FAU - Abdelhak, Sonia
AU  - Abdelhak S
FAU - Dellagi, Koussay
AU  - Dellagi K
CN  - Tunisian Fanconi Anemia Study Group
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (FANCA protein, human)
RN  - 0 (Fanconi Anemia Complementation Group A Protein)
RN  - 0 (Genetic Markers)
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - *Bone Marrow Transplantation
MH  - Child
MH  - Chimerism
MH  - DNA-Binding Proteins/genetics
MH  - Fanconi Anemia/*genetics/*surgery
MH  - Fanconi Anemia Complementation Group A Protein
MH  - Female
MH  - Genetic Markers/genetics
MH  - HLA Antigens/*genetics
MH  - Haplotypes/genetics
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats/*genetics
MH  - Pedigree
MH  - *Tissue Donors
MH  - *Transplantation Chimera
MH  - Transplants
EDAT- 2005/02/25 09:00
MHDA- 2005/04/02 09:00
CRDT- 2005/02/25 09:00
PHST- 2005/02/25 09:00 [pubmed]
PHST- 2005/04/02 09:00 [medline]
PHST- 2005/02/25 09:00 [entrez]
AID - 10.1089/gte.2004.8.268 [doi]
PST - ppublish
SO  - Genet Test. 2004 Fall;8(3):268-75. doi: 10.1089/gte.2004.8.268.