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Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation
- Source :
- Sultan Qaboos University Medical Journal, Vol 18, Iss 4, Pp 440-446 (2019)
- Publication Year :
- 2019
- Publisher :
- Sultan Qaboos University, 2019.
-
Abstract
- 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
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
Genetic Carrier Screening
Clinical & Basic Research
lcsh:Medicine
Ataxia Telangiectasia Mutated Proteins
Iran
Radiation Tolerance
Gastroenterology
Ataxia Telangiectasia
03 medical and health sciences
0302 clinical medicine
Caffeine
Neoplasms
Internal medicine
medicine
Humans
Child
Telangiectasia
Immunodeficiency
Receiver operating characteristic
business.industry
lcsh:R
Cancer
Heterozygote advantage
General Medicine
Middle Aged
Atherosclerosis
medicine.disease
G2 Phase Cell Cycle Checkpoints
Diabetes Mellitus, Type 2
Child, Preschool
030220 oncology & carcinogenesis
Ataxia-telangiectasia
Female
Chromosome breakage
medicine.symptom
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 20750528
- Volume :
- 18
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Sultan Qaboos University Medical Journal
- Accession number :
- edsair.doi.dedup.....c39dd5ad951361d5c90a3d0cf7511e8c