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ANALYSIS OF CHIMERISM AFTER ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION IN THE STUDY OF GENETIC POLYMORPHISMS ASSOCIATED WITH THROMBOPHILIA
Author(s): ,
Elena Butina
Affiliations:
immunogematology,Federal State Institute of Science “Kirov research Institute of Hematology and Blood Transfusion of the Federal Medical and Biological Agency of Russia”,Kirov,Russian Federation
,
Natalia Minaeva
Affiliations:
immunogematology,Federal State Institute of Science “Kirov research Institute of Hematology and Blood Transfusion of the Federal Medical and Biological Agency of Russia”,Kirov,Russian Federation
,
Galina Zaitseva
Affiliations:
immunogematology,Federal State Institute of Science “Kirov research Institute of Hematology and Blood Transfusion of the Federal Medical and Biological Agency of Russia”,Kirov,Russian Federation
Anastasia Kiseleva
Affiliations:
immunogematology,Federal State Institute of Science “Kirov research Institute of Hematology and Blood Transfusion of the Federal Medical and Biological Agency of Russia”,Kirov,Russian Federation
(Abstract release date: 05/19/16) EHA Library. Butina E. 06/09/16; 135097; PB2197
Mrs. Elena Butina
Mrs. Elena Butina
Contributions
Abstract
Abstract: PB2197

Type: Publication Only

Background
Currently, much attention is paid to the development of simple and relatively inexpensive methods of diagnosing hematopoietic chimerism.

Aims
To study the possibility of using gene allelic variants of thrombophilia as markers chimerism after allogeneic hematopoietic stem cell transplantation (allo-HSCT). 

Methods
The results of examination of 10 patients, which in 2015 was performed allogeneic HSCT. Donors of hematopoietic stem cells for 8 patients were siblings, donors for 2 patients were selected  from the Bone Marrow Transplant Registry. In all cases the donors and recipients were HLA-identical class I and II. Allo-HSCT utilizing a myeloablative regimen was performed in 7 patients. HSCT in the mode of  increased intensity was used in 3 patients. The gene polymorphisms were analyzed by polymerase chain reaction in real time. In order to identify information markers analyzed gene polymorphism F2, F5, F7, F13, FGB, ITGA2, ITGB3, PAI-1, MTHFR: 665, MTHFR: 1286, MTR, MTRR. Chimerism was investigated at 28, 42, 56, 70, 100, 120 days after HSCT. 

Results
Genetic differences were detected in 9 of the 10 donor-recipient pairs (from 1 to 7, median -5). The greatest number of distinctions obtained in the study of allelic variants of the gene FGB (7 out of 10 couples). In the analysis of gene MTHFR: 1286 differences were detected in 6 pairs; ITGA2, ITGB3, PAI-1- in 4 pairs, F13, MTHFR: 665, MTRR - in 3 pairs. For each pair were chosen polymorphisms that act as molecular markers allow to differentiate donor and recipient cells after  HSCT. In three cases, the donors and recipients were homozygous for different alleles of one gene. In other cases, an identification mark considered polymorphism, in which one allele was common to both donor and recipient, the second - only for specific recipient. Complete donor chimerism was established in 7 patients on day 28 after HSCT.

Conclusion
Genetic polymorphisms associated with thrombophilia meet the basic requirements of the markers hematopoietic chimerism: analysis is based on the identification of regions of the genome that differ one nucleotide sequence; investigated two allelic variants of the gene; frequency of occurrence in the population of homo- and heterozygous for this is sufficient for the detection of genetic differences at 90% of donor-recipient pairs.

Session topic: E-poster

Keyword(s): Chimerism, HSCT, Thrombophilia
Abstract: PB2197

Type: Publication Only

Background
Currently, much attention is paid to the development of simple and relatively inexpensive methods of diagnosing hematopoietic chimerism.

Aims
To study the possibility of using gene allelic variants of thrombophilia as markers chimerism after allogeneic hematopoietic stem cell transplantation (allo-HSCT). 

Methods
The results of examination of 10 patients, which in 2015 was performed allogeneic HSCT. Donors of hematopoietic stem cells for 8 patients were siblings, donors for 2 patients were selected  from the Bone Marrow Transplant Registry. In all cases the donors and recipients were HLA-identical class I and II. Allo-HSCT utilizing a myeloablative regimen was performed in 7 patients. HSCT in the mode of  increased intensity was used in 3 patients. The gene polymorphisms were analyzed by polymerase chain reaction in real time. In order to identify information markers analyzed gene polymorphism F2, F5, F7, F13, FGB, ITGA2, ITGB3, PAI-1, MTHFR: 665, MTHFR: 1286, MTR, MTRR. Chimerism was investigated at 28, 42, 56, 70, 100, 120 days after HSCT. 

Results
Genetic differences were detected in 9 of the 10 donor-recipient pairs (from 1 to 7, median -5). The greatest number of distinctions obtained in the study of allelic variants of the gene FGB (7 out of 10 couples). In the analysis of gene MTHFR: 1286 differences were detected in 6 pairs; ITGA2, ITGB3, PAI-1- in 4 pairs, F13, MTHFR: 665, MTRR - in 3 pairs. For each pair were chosen polymorphisms that act as molecular markers allow to differentiate donor and recipient cells after  HSCT. In three cases, the donors and recipients were homozygous for different alleles of one gene. In other cases, an identification mark considered polymorphism, in which one allele was common to both donor and recipient, the second - only for specific recipient. Complete donor chimerism was established in 7 patients on day 28 after HSCT.

Conclusion
Genetic polymorphisms associated with thrombophilia meet the basic requirements of the markers hematopoietic chimerism: analysis is based on the identification of regions of the genome that differ one nucleotide sequence; investigated two allelic variants of the gene; frequency of occurrence in the population of homo- and heterozygous for this is sufficient for the detection of genetic differences at 90% of donor-recipient pairs.

Session topic: E-poster

Keyword(s): Chimerism, HSCT, Thrombophilia

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