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Fulltext DNA Methylation of IGSF4 gene as an Epigenetic Modifier in HbE/β-Thalassaemia

Haiyuni Mohd Yassim, Wan Zaidah Abdullah, Muhammad Farid Johan

Journal of Biomedical and Clinical Sciences, 2017;2(202):17-19.
MyJurnal

The large clinical spectrum of Haemoglobin E (HbE)/β-thalassaemia leads to identification of modifiers that cause the complexity1. IGSF4, a member of the immunoglobulin superfamily 4 is known as a thalassaemia-related gene that plays an important role in globin synthesis. Methylation of IGSF4 was reported to interrupt the process of globin synthesis through its interaction with other genes in the regulation network of globin expression2. Specific cells isolation is needed in order to study the methylation profile as the interaction between various haematopoietic cells including nucleated red blood cells (NRBCs) in whole blood could impact the methylation results3. Therefore, the objective of this study was to describe the pattern of DNA methylation at the promoter region of IGSF4 gene that may involve in the alteration of globin synthesis in HbE/β-thalassaemia patients.
Fulltext Isolation of peripheral blood nucleated red blood cells from β-Thalassaemia patients using CD71 magnetic activated cell sorting

Haiyuni Mohd Yassim, Ali, Heba, Rosline Hassan, Wan Zaidah Abdullah, Muhammad Farid Johan

Journal of Biomedical and Clinical Sciences, 2017;2(202):14-16.
MyJurnal

The molecular biology knowledge in β-thalassaemia is limited due to the involvement of various erythropoeitic processes where the genetic information is lack due to nucleus ejection throughout the maturation of red blood cell activities concurrence with the accumulation of haemoglobin. Nucleated red blood cells (NRBCs) are typically found in peripheral blood (PB) of β-thalassaemia transfusion dependent patients and abundant in post splenectomy (Fig. 1A) [1]. The presence of NRBCs will provide further understanding on the molecular aspect of ineffective erythropoiesis in β-thalassaemia patients. Therefore, the objectives of this study were to isolate the NRBCs using CD71 magnetic beads from PB of β-thalassaemia patients and to compare the quantity of NRBCs enriched between non-splenectomised transfusion dependent and post-splenectomised transfusion dependent β-thalassaemia patients.
Conformation sensitive gel electrophoresis for the detection of calreticulin mutations in BCR-ABL1-negative myeloproliferative neoplasms

Zakaria NA, Rosle NA, Siti Asmaa MJ, Aziee S, Haiyuni MY, Samat NA, et al.

Int J Lab Hematol, 2021 Dec;43(6):1451-1457.
PMID: 34125992 DOI: 10.1111/ijlh.13628

INTRODUCTION: Calreticulin (CALR) mutations in myeloproliferative neoplasms (MPN) have been reported to be key markers in the molecular diagnosis, particularly in patients lacking JAK2 V617F mutation. In most current reports, CALR mutations were analysed by either allele-specific PCR (AS-PCR), or the more expensive quantitative real-time PCR, pyrosequencing and next-generation sequencing. Hence, we report the use of an alternative method, the conformation sensitive gel electrophoresis (CSGE) for the detection of CALR mutations in BCR-ABL1-negative MPN patients.
METHODS: Forty BCR-ABL1-negative MPN patients' DNA: 19 polycythemia vera (PV), 7 essential thrombocytosis (ET) and 14 primary myelofibrosis (PMF), were screened for CALR mutations by CSGE. PCR primers were designed to amplify sequences spanning between exons 8 and 9 to target the mutation hotspots in CALR. Amplicons displaying abnormal CSGE profiles by electrophoresis were directly sequenced, and results were analysed by BioEdit Sequence Alignment Editor v7.2.6. CSGE results were compared with AS-PCR and confirmed by Sanger sequencing.
RESULTS: CSGE identified 4 types of mutations; 2 PMF patients with either CALR type 1 (c.1099_1150del52) or type 2 (c.1155_1156insTTGTC), 1 ET patient with nucleotide deletion (c.1121delA) and insertion (c.1190insA) and 1 PV patient with p.K368del (c.1102_1104delAAG) and insertion (c.1135insA) inframe mutations. Three patients have an altered KDEL motif at the C-terminal of CALR protein. In comparison, AS-PCR only able to detect two PMF patients with mutations, either type 1 and type 2.
CONCLUSION: CSGE is inexpensive, sensitive and reliable alternative method for the detection of CALR mutations in BCR-ABL1-negative MPN patients.

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