Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH)

Erian, Peter SF; El-Kamah, Ghada Y.; Eid, Maha M.; Mohamed, Amal M.

doi:10.21608/mxe.2024.254410.1009

Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH)

Document Type : Original Article

Authors

¹ Human Cytogenetics department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

² Department of Clinical Genetics, Human Genetics and Genome Research Institute (HGGI), National Research Centre (NRC), Cairo, Egypt.

³ Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

10.21608/mxe.2024.254410.1009

Abstract

Background: Telomere length quantification had evolutionary been used in assessment and linking the phenotype and severity of many diseases, among these are progeroid syndromes. Aim of Study: 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 is a powerful tool for measurement and assessment of telomere length. It was used in this study to assess the telomere length in all patients’ and control groups. Q-FISH 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.

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