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Original ArticleOpen Access
The Usefulness of Xlinked 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
Sasanakul W 
,
Hongeng S ,
Chuansumrit A ,
Chaiyaratana W ,
Pakakasama S ,
Hathirat P
,
Hongeng S ,
Chuansumrit A ,
Chaiyaratana W ,
Pakakasama S ,
Hathirat P SURADEJ HONGENG, M.D.*, **,
WATHANEE CHAIYARATANA, M.Sc.***,
PHONGJAN HATHIRAT, M.D.*,**
Wiskott-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
/
2
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.
Key word : X-linked Polymorphic Loci, Chimerism, Allogeneic Transplant, Wiskott-Aldrich
Syndrome
WATHANEE CHAIYARATANA, M.Sc.***,
PHONGJAN HATHIRAT, M.D.*,**
Wiskott-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
/
2
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.
Key word : X-linked Polymorphic Loci, Chimerism, Allogeneic Transplant, Wiskott-Aldrich
Syndrome
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