الملخص
Objectives: Ataxia-telangiectasia (A-T) is an autosomal recessive multisystem disorder characterised by cerebellar degeneration, telangiectasia, radiation sensitivity, immunodeficiency, oxidative stress and cancer susceptibility. Epidemiological research has shown that carriers of the heterozygous ataxia-telangiectasia mutated (ATM) gene mutation are radiosensitive to ionising irradiation and have a higher risk of cancers, type 2 diabetes and atherosclerosis. However, there is currently no fast and reliable laboratory-based method to detect heterozygous ATM carriers for family screening and planning purposes. This study therefore aimed to evaluate the ability of a modified G2-assay to identify heterozygous ATM carriers in the families of A-T patients. Methods: This study took place at the Tehran University of Medical Sciences, Tehran, Iran, between February and December 2017 and included 16 A-T patients, their parents (obligate heterozygotes) and 30 healthy controls. All of the subjects underwent individual radiosensitivity (IRS) assessment using a modified caffeine-treated G2-assay with G2-checkpoint abrogation. Results: The mean IRS of the obligate ATM heterozygotes was significantly higher than the healthy controls (55.13% ± 5.84% versus 39.03% ± 6.95%; P <0.001), but significantly lower than the A-T patients (55.13% ± 5.84% versus 87.39% ± 8.29%; P = 0.001). A receiver operating characteristic (ROC) curve analysis of the G2-assay values indicated high sensitivity and specificity, with an area under the ROC curve of 0.97 (95% confidence interval: 0.95–1.00). Conclusion: The modified G2-assay demonstrated adequate precision and relatively high sensitivity and specificity in detecting heterozygous ATM carriers.
الموضوع
بيانات النشر
- المعرّف الرقمي
- 10.18295/squmj.2018.18.04.003
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 18(4), e440-446
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Aghamohammadi, A., Akrami, S. M., Rezaei, M., Nima, Azizi, G., Yaseri, M., Nosrati, H., & Zaki-Dizaji, M. (2025). Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation. Sultan Qaboos University Medical Journal, 18(4), e440-446. https://doi.org/10.18295/squmj.2018.18.04.003
MLA 9
Aghamohammadi, Asghar, et al. "Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation." Sultan Qaboos University Medical Journal, vol. 18, no. 4, 2025, pp. e440-446. https://doi.org/10.18295/squmj.2018.18.04.003.
شيكاغو (المؤلف–التاريخ)
Aghamohammadi, Asghar, Seyed M. Akrami, Marjan Rezaei, Nima, Gholamreza Azizi, Mehdi Yaseri, Hassan Nosrati, and Majid Zaki-Dizaji. 2025. "Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation." Sultan Qaboos University Medical Journal 18 (4): e440-446. https://doi.org/10.18295/squmj.2018.18.04.003.
هارفارد
Aghamohammadi, A., Akrami, S. M., Rezaei, M., Nima, Azizi, G., Yaseri, M., Nosrati, H. and Zaki-Dizaji, M. (2025) 'Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation', Sultan Qaboos University Medical Journal, 18(4), pp. e440-446. doi:10.18295/squmj.2018.18.04.003.
فانكوفر
Aghamohammadi A, Akrami SM, Rezaei M, Nima, Azizi G, Yaseri M, et al. Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation. Sultan Qaboos University Medical Journal. 2025;18(4):e440-446. doi:10.18295/squmj.2018.18.04.003
IEEE
A. Aghamohammadi, S. M. Akrami, M. Rezaei, Nima, G. Azizi, M. Yaseri, H. Nosrati, and M. Zaki-Dizaji, "Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation," Sultan Qaboos University Medical Journal, vol. 18, no. 4, pp. e440-446, 2025, doi: 10.18295/squmj.2018.18.04.003.