| ObjectiveMore and more proofs indicated that aplastic anemia is an autoimmune disease whose target cell are hematopoietic cells. Many experiments had showed that interferon-γwas elevated in aplastic anemia patients, and the interferon-γis the mark of activated immune system, and may be the center component element that activated cytotoxic T cells destroy the bone marrow haemopoietic stem cell. The production of IFN-γis related with the gene polymorphism of IFN-γ. Our study is to explore the relationship between IFN-γgene polymorphism (including IFN-γ+874 A/T single nucleotide polymorphism and CA short tandem repeat polymorphism) and the inheritance susceptibility of aplastic anemia.Material and Methods54 patients, who were diagnosed as acquired aplastic anemia in West China Hospital of Sichuan University from February, 2006 to March, 2007. 51 healthy adults were used as normal control. In this study, amplification refractory mutation system-polymerase chain reaction was used to amplify the polymorphism gene segment of IFN-γ+874 A/T. And the polymerase chain reaction and polyacrylamide gelelectrophoresis was used to assay the CA short tandem repeat polymorphism.Results1. Frequencies of AA, AT and TT genotype were 11.11%, 46.30% and 42.59% in the aplastic anemia group respectively, and in the normal control group were 39.22%, 43.14% and 17.64% respectively. A significant difference was found in the frequency distribution of IFN-γ+874 genotype between two groups (X~2=13.780,P=0.01). In the aplastic anemia group the TT genotype was more common than normal control group.2. Frequencies of +874T allele was predominant in the aplastic anemia, it's 65.74%. While the normal control group is 39.22%. A significant difference was found in the frequency distribution of IFN-γ+874 allele between two groups (X~2=14.811,P<0.001).3. Frequencies of IFN-γ+874AA, AT and TT genotype were 16.00%, 44.00% , 40.00% in the acute aplastic anemia group, and 6.80%, 48.28%, 44.82% in the chronic aplastic anemia group respectively (X~2=1.128, P=0.569). The Frequencies of IFN-γ+874A and IFN-γ+874T were 38.00% and 62.00% respectively in the acute aplastic anemia , while in the chronic aplastic anemia were 31.03% and 68.97% respectively (X~2=0.578,P=0.447). Nonsignificant difference was found in the frequency distribution of IFN-γ+874 genotype and allele between two groups.4. The frequency of the homozygous for 12-12 (CA) repeats in the patients is 18.52%, which is obviously higher than the control group's frequency which is 2.00% (P=0.008) ,There is significant difference in the statistical significance between those two groups.5. The frequency of the single allele 12 (CA) repeats in the patients is 50.92%, which is obviously higher than the control group's frequency which is 26.47% (X~2=13.152 ,P<0.001) , There is significant difference in the statistical significance between those two groups.6. The frequency of the homozygous for 12 (CA) repeats and the single allele 12 (CA) in the acute aplastic anemia group isl2.00%, 48.00%, while in the chronic aplastic anemia group is 24.14%,53.45%, there is no significant difference between those two groups(X~2=1.311,P=0.252,X~2=0.319, P=0.572).Conclusion This study suggested that:1. IFN-γgene polymorphism is associated with the susceptibility of aplasticanemia, the IFN-γ+874 TT genetype and T allele in the aplastic anemia group are prevalent, which show that IFN-γ+874 A/T gene polymorphism is associated with the susceptibility of aplastic anemia.2. IFN-γCA short tandem repeat polymorphism is associated with the susceptibility of aplastic anemia, the IFN-γhomozygous for 12 (CA) repeats and the single allele 12 (CA) in the aplastic anemia patients are prevalent, which show that IFN-γCA short tandem repeat polymorphism is associated with the susceptibility of aplastic anemia.3. Both IFN-γ+874 A/T gene polymorphism and IFN-γCA short tandemrepeat polymorphism have no relation with the severity of the aplastic anemia.
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