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Showing 2 results for Poopak B
Poopak B, Yahyavi Sh, Haghnejad Doshanlo F, Rezvani H, Martignetti J, Difeo A, Khosravipour G, Farahani K,
Volume 15, Issue 2 (Summer 2005)
Abstract
May-Hegglin anomaly (MHA) is a rare autosomal disorder which is characterized by triad of thrombocytopenia, giant platelets and Dohle like inclusion bodies in granulocytes. This is the first report of
MHA and its mutation from Iran.
The specimen of two patients (father 51 and son 15 y/o) collected with EDTA and tri-sodium citrate anticoagulants. CBC and peripheral blood smear studied by automatic cell counter and microscopic examination, respectively. Direct sequencing of extracted DNA of certain exons of MYH9 gene was performed. Both patients had demonstrated the diagnostic triad of MHA. Mutations showed homozygous and heterozygous pattern in the father and the son, respectively.
This is the first report of MHA from Iran. The mutation of both patients was E1841K which is the most common type among MYH9 mutations in MHA. The most interesting finding was the homozygous mutation that did not entail any clinical severity.
Poopak B, Poorfathoolah A, Najmabad H, Yahyavi Sh, Mortazavi Y, Vosough P, Ansari Damavandi Sh, Arjomandy Rafsanjani K, Arzanian Mt, Izadyar M, Bahoosh Gr, A Shahgholi, Hamidieh Aa, Faranoosh M, Khosravipoor G, Haghnejad F,
Volume 15, Issue 3 (fall 2005)
Abstract
Background: Clonal gene rearrangement of immunoglobulin and T cell receptor may have mono, bi or oligoclonal pattern. Significance of these patterns were studied at diagnosis and follow up of MRD in many countries, however, similar studies have not been conducted among Iranian patients. We investigated the bi/oligoclonal pattern and their association with quantitative and qualitative parameters especially MRD in Iranian children suffering from B-precursor acute lymphoblastic leukemia.
Materials and methods: In our prospective study, bone marrow aspirates of 140 patients with B-precursor ALLs were selected. Mononuclear cells including leukemic blasts isolated by density gradient. Having DNA extracted, hypervariable regions of IgH, IgK, TCR-δ (Dδ2-Dδ3,Vδ2-Dδ3) and TCR-γ (Vγ, VγI, VγII) were amplified by consensus primers using PCR. PCR products were analyzed after heteroduplex analysis and polyacrylamide gel electrophoresis (silver stain). The DNA sequences were compared and aligned to the sequences homologous for IgH and IgK published by Gene Bank. Bone marrow aspirates of days 14, 28 and 45, as well as months 3, and 6 were treated similarly.
Results: IgH gene rearrangements were reported in 114 (90.5%) patients using consensus primers for CDR-III and CDR-I regions (monoclonal:57.8%, biclonal:34.9% and oligoclonal:5.5%). Clonal pattern of Igκ-Kde were present in 59 cases (67%) (biclonal:10%). Clonal rearrangement of TCR-γ (Vγ) and VγI/II were present in 79.3% and 64.9% of patients, respectively, however, only 5% of cases showed biclonal pattern. The VγII rearrangement was the most common (46.8%) type in TCR-γ. 47 (45.2%) and 11 (16.6%) patients had Vδ2-Dδ3 and Dδ2–Dδ3 partial gene rearrangements, respectively. Biclonal/oligoclonal pattern were present in 13 (27.7%) and 2 (4.3%) cases with Vδ2-Dδ3 rearrangement. Only one patient had biclonal Dδ2-Dδ3 rearrangement. No significant difference regarding the quantitative and qualitative parameters and MRD was observed between the two groups.
Conclusion: Bi/oligoclonal rearrangement of IgH, IgK, TCR-δ (Dδ2-Dδ3,Vδ2-Dδ3) and TCR-γ (Vγ, VγI, VγII) genes had comparable pattern to other populations. Results of MRD study showed no significant differences between the two groups.
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