Polymorphisms of the homologous recombination gene RAD51 in Egyptian patients with keratoconus / Sara Mazen Mohamed Labib ; Supervised Ismail Abdelshafy Abdelhamid , Shahira Riad Nowier

Thesis (M.Sc.) - Cairo University - Faculty of Science - Department of Biotechnology

Background: Keratoconus (KC) is a chronic, inflammatory, degenerative disease that attacks the cornea. KC can lead to severe visual impairment or blindness reflecting negatively on the patient{u2019}s quality of life. Also, KC usually manifests itself during the late teens or early twenties. The pathogenesis of KC is multifactorial depends on various factors including genetic, environmental, and behavioral factors as well as the interaction between them. The RAD51 gene is a homologous recombination repair (HRR) gene and its protein is the central protein involved in the HRR mechanism of DNA double-strand breaks (DSBs) in humans. Objective: The main goal of this study is to test whether KC is associated with some potential risk factors or not in the Egyptian population. Also, we aim to study whether the genotypes of the G172T and G135C polymorphisms of the RAD51 gene are associated with KC occurrence or not. Also, if they can be used as biomarkers in the future for the early diagnosis of KC to avoid its complications and improve the quality of life of Egyptian KC patientsSubjects and Methods: The two polymorphisms of the RAD51 gene were genotyped in peripheral blood lymphocytes of 100 KC patients and 150 controls-all are Egyptian-with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLE) technique. Besides, we investigated the association between some factors and KC occurrence (age, sex, tobacco smoking, eye allergy, and co-occurrence of KC in consanguineous families) independently of genotype

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