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International Journal of Pediatrics، جلد ۴، شماره ۱۲، صفحات ۳۹۵۷-۳۹۶۷
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عنوان انگلیسی Phospho-SMC1 in-Cell ELISA based Detection of Ataxia Telangiectasia
چکیده انگلیسی مقاله BackgroundAtaxia telangiectasia (A-T) is a common genetically inherited cause of early childhood-onset ataxia. The infrequency of this disease, vast phenotype variation, disorders with features similar to those of A-T, and lack of definite laboratory test, make diagnosis difficult. In addition, there is no rapid reliable laboratory method for identifying A-T heterozygotes, who susceptible to ionizing radiation (IR), atherosclerosis, diabetes, and cancers. We used SMC1pSer966 (pSMC1) in-cell colorimetric ELISA to diagnosis and screen in A-T families.Materials and Methods: With informed consent, 2cc peripheral blood was collected from the 15 A-T patients, their parents, and 24 healthy controls with no family history of malignancy, diabetes, and atherosclerosis. Extracted peripheral blood mononuclear cells (PBMCs) were cultured in poly-L-Lysine treated 96-well plate with density of 70,000 cells per well. SMC1 phosphorylation was evaluated with cell-based ELISA kit 1 hour after 5 Gy IR and the pSMC1data normalized with Glyceraldehyde-3-phosphate dehydrogenase (GAPDH).Results: SMC1 phosphorylation was significantly low in A-T`s PBMC (mean + standard deviation [SD]: 0.075 + 0.034) in comparison to carriers (mean + SD: 0.190 + 0.060) and healthy controls (mean + SD: 0.312 +0.081), but unluckily could only discriminate A-T patients (Area Under the Curve -receiver operating characteristic [AUC-ROC]: 1.00, 1.00-1.00). This method in spite of rapidness and simplicity showed poor imprecision (22.49% coefficient of variation [CV] for intraday imprecision).Conclusion: It seems pSMC1 assessment by in-cell ELISA can be used for detection of A-T patients, but it may not sensitive enough for identification of carriers. This ELISA test is very simple, rapid, and requires less than 2cc blood. Thus it may be proposed for the early differential diagnosis of A-T as an alternative method.
کلیدواژه‌های انگلیسی مقاله Ataxia telangiectasia, Children, ELISA, PBMC, SMC1
نویسندگان مقاله مجید ذکی دیزجی | majid zaki dizaji
department of medical genetics, school of medicine, tehran university of medical sciences

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

نیما رضایی | nima rezaei
research center for immunodeficiencies, children amp;amp; 039;s medical center, tehran university of medical science, tehran, iran

سازمان اصلی تایید شده: دانشگاه تهران (Tehran university)

مرجان یغمایی | marjan yaghmaie
hematology, oncology and stem cell transplantation research center, shariati hospital, tehran university of medical sciences

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

مهدی یاسری | mehdi yaseri
department of epidemiology and biostatistics, tehran university of medical sciences

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

سید جواد سیدی | seyed javad sayedi
department of pediatrics, school of medicine, mashhad university of medical sciences, mashhad, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)

غلامرضا عزیزی | gholamreza azizi
department of laboratory medicine, imam hassan mojtaba hospital, alborz university of medical sciences, karaj, iran.


اصغر آقامحمدی | asghar aghamohammadi
research center for immunodeficiencies, children amp;amp; 039;s medical center, tehran university of medical science, tehran, iran

سازمان اصلی تایید شده: دانشگاه تهران (Tehran university)

سید محمد اکرمی | seyed mohammad akrami
department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

نشانی اینترنتی http://ijp.mums.ac.ir/article_7751.html
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