The Usefulness of X-Iinked Polymorphic Loci as Gene
Markers to Track X Allele and Chimerism in a Post
Allogeneic Peripheral Blood Stem Cell Transplant
Patient with Wiskott-Aidrich Syndrome
WERASAK SASANAKUL, B.Sc. ***, SURADEJ HONGENG, M.D.*, **,
AMPAIWAN CHUANSUMRIT, M.D.*, WATHANEE CHAIYARATANA, M.Sc.***,
SAMART PAKAKASAMA, M.D.*,**, PHONGJAN HATHIRAT, M.D.*,**
Affiliation : * Division of Hematology and Oncology, Department of Pediatrics,
** Bone Marrow Transplant Program,
*** Research Center, Faculty to Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
AbstractWiskott-Aldrich syndrome (WAS), an X-linked recessive disorder, is characterized by pro
gressive T-cell immunodeficiency. Laboratory findings generally demonstrate reduced response
to T-cell mitogens, markedly decreased serum concentration of lgM, and thrombocytopenia with
small platelet volume. Allogeneic HLA-matched sibling bone marrow transplantation (BMT)
can correct this disorder. We report the usefulness of X-linked polymorphic loci to detect
X-allele gene tracking among WAS siblings and chimerism between a pre- and post-allogeneic
matched sibling peripheral blood stem cell transplantation (PBSCT). A 3 1 / year old boy with clinical
and laboratory findings consistent with WAS underwent allogeneic matched sibling PBSCT. We
used Bell restriction fragment length polymorphism (RFLP) of intron 18 of factor VII gene and Msel
RFLP of the 5' flanking region of factor IX gene to detect X-allele gene tracking among siblings
and family members and chimerism in patients between pre-and post-allogeneic matched sibling
PBSCT. We were able to demonstrate that determination of Bell and Msel RFLP can be employed to
recognize the difference in X-allele genes between the recipient and donor for allogeneic
matched sibling PBSCT. The authors also were able to demonstrate that these polymorphic loci can
detect full chimerism of donor hematopoietic cells in recipient blood after allogeneic PBSCT. This
finding was correlated with improvement of post-PBSCT clinical and laboratory findings. Bell
and Msel RFLP associated with X-chromosome can effectively track X-allele, detect carrier
state, and demonstrate the different X-allele among male siblings, and chimerism of hematopoietic
cells between donors and recipients in a setting of allogeneic matched sibling BMT or PBSCT
for X-linked hereditary diseases such as Wiskott-Aldrich syndrome.
Keywords : X-linked Polymorphic Loci, Chimerism, Allogeneic Transplant, Wiskott-Aldrich Syndrome
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