Individual radiosensitivity assessment of the families of ataxia-telangiectasia patients by G2-checkpoint abrogation
Other Title(s)
التقييم الفردي للحساسية الإشعاعية لعائلات مرض اختلاج الحركة الناشئ عن تمدد الشعيرات الدموية بواسطة إلغاء نقاط تفتيش ج 2
Joint Authors
Yasiri, Mahdi
Agha Muhammadi, Asghar
Akrami, Sayyid Muhammad
Yaghmai, Marjan
Nusrati, Hasan
Zaki Dizaji, Majid
Rezaei, Nima
Uzayzi, Ghulam Rida
Source
Sultan Qaboos University Medical Journal
Issue
Vol. 18, Issue 4 (30 Nov. 2018), pp.440-446, 7 p.
Publisher
Sultan Qaboos University College of Medicine and Health Sciences
Publication Date
2018-11-30
Country of Publication
Oman
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Agha Muhammadi, Asghar& Akrami, Sayyid Muhammad& Yaghmai, Marjan& Rezaei, Nima& Uzayzi, Ghulam Rida& Yasiri, Mahdi…[et al.]. 2018. Individual radiosensitivity assessment of the families of ataxia-telangiectasia patients by G2-checkpoint abrogation. Sultan Qaboos University Medical Journal،Vol. 18, no. 4, pp.440-446.
https://search.emarefa.net/detail/BIM-890762
Modern Language Association (MLA)
Agha Muhammadi, 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 (Nov. 2018), pp.440-446.
https://search.emarefa.net/detail/BIM-890762
American Medical Association (AMA)
Agha Muhammadi, Asghar& Akrami, Sayyid Muhammad& Yaghmai, Marjan& Rezaei, Nima& Uzayzi, Ghulam Rida& Yasiri, Mahdi…[et al.]. Individual radiosensitivity assessment of the families of ataxia-telangiectasia patients by G2-checkpoint abrogation. Sultan Qaboos University Medical Journal. 2018. Vol. 18, no. 4, pp.440-446.
https://search.emarefa.net/detail/BIM-890762
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 445-446
Record ID
BIM-890762