| Ataxia
telangiectasia (A T) is a rare autosomal recessive multisystemic syndrome marked by progressive cerebellar ataxia,
oculocutaneous telangiectasia, variable immunodeficiency, chromosomal instability, radiosensitivity, and a high risk of
malignancy, primarily leukemia and lymphoma in children and epithelial cancers in surviving adults. The onset of
neurological abnormalities in A T patients usually happens between the ages of 1 and 4. A T a ffects 1 in 40,000 to 100,000
births worldwide. Because of the high consanguinity marriage rate and ethnic components in Iran, this frequency differs from
country to country. Importantly, the frequency of A T carriers (heterozygotes) is estimated to be aro und 1 2 percent of the
overall population. The aim of this study is to integrate them in order to create a quick, simple, and low cost approach to
assess SMC1 phosphorylation. To identify A T patients, we used an in cell ELISA colorimetric detection techni que to
evaluate ATM dependent phosphorylation of the SMC1 protein after DNA damage as well as carriers. Flow cytometry can
also be used in addition to ELISA on protein lysate. Although ELISA is a simple, inexpensive, and quick test that can be
found in any laboratory, flow cytometry is more repeatable than ELISA because it uses a direct fluorescence detection system
rather than the more indirect detection method used by ELISA, and it is a less error prone and more precise method. As a
result, more research is needed to provide a quick and easy method for identifying A T carriers and patients with high
sensitivity and specificityddd |
