Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) | ||||
| Middle East Journal of Medical Genetics | ||||
| Articles in Press, Accepted Manuscript, Available Online from 12 February 2024 | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/mxe.2024.254410.1009 | ||||
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| Authors | ||||
Peter SF Erian   1; Ghada Y. El-Kamah2; Maha Eid3; Amal Mohamed3
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| 1Human Cytogenetics department, NRC | ||||
| 2Department of Clinical Genetics, Human Genetics and Genome Research Institute (HGGI), National Research Centre (NRC), Cairo, Egypt. | ||||
| 3National Research Centre | ||||
| Abstract | ||||
| Background: Telomere length quantification had evolutionary been used in assessment and linking the phenotype and severity of many diseases, among these progeroid syndromes. Aim: This study aims to measure the individual telomere length in premature aging syndromes through establishment of the new technique of Quantitative Fluorescence In Situ Hybridization (Q-FISH) and the use of telomere length as an early diagnostic tool, prognostic factor and follow up tool for the premature aging syndromes patients. Patients and methods: This study was conducted on 27 patients and 10 normal controls matching in age and sex, patients were grouped into Fanconi anemia (FA) and non-Fanconi anemia groups. All patients and normal controls were subjected to thorough clinical assessment and blood sample were taken for Q-FISH. Results: Non-FA group had shown shorter telomere length than that of FA group. Patients having high number of clinical abnormalities had shown shorter telomere length, while patients with better hemoglobin and higher platelet levels had shown longer telomeres. Conclusion: Q-FISH technique was now well-established in our cytogenetics department as a diagnostic method for the measurement of telomere length, and it was used in this study to assess the telomere length in all patients’ and control groups. Q-FISH as a powerful tool for measurement and assessment of telomere length is recommended to be done in all patients suffering from premature aging syndromes and progeroid features, and could be considered as a prognostic marker for these syndromes. | ||||
| Keywords | ||||
| QFISH; Progeroid syndromes; Fanconi anemia; Progeria; Telomere length | ||||
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