کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3979079 | 1257318 | 2012 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Ãtude moléculaire du rétinoblastome dans la population algérienne. Recherche de mutations du gène Rb au niveau constitutionnel et tumoral
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
تومور شناسی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Inactivation of both alleles of the RB1 gene during normal retinal development initiates the formation of a retinoblastoma (RB) tumor. RB1 screening remains difficult, most of the alterations being unique and randomly distributed throughout the entire coding sequence. In this report, we present the results of a constitutionnal and tumoral RB1 analysis in Algerian population. The detection of RB1 gene deletion or mutation was performed by high performance liquid chromatography (HPLC) and sequence analyses in 21Â patients. Germline abnormalities were found in 2/21Â patients of sporadic unilateral retinoblastoma. The spectrum of germline and tumoral alterations included: three nonsense mutations; one mutation affecting splice site; one deletion and two polymorphisms. In general, for the 21Â patients with no family history of the disease, we have identified mutations in germinal level in two of them showing that it is a transmissible form of retinoblastoma in these two cases known to be sporadic. A total of two mutations have not been previously reported.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Bulletin du Cancer - Volume 99, Issue 2, February 2012, Pages 127-135
Journal: Bulletin du Cancer - Volume 99, Issue 2, February 2012, Pages 127-135
نویسندگان
Amina Boubekeur, Lotfi Louhibi, Khadidja Mahmoudi, Abdallah Boudjema, Nadhira Mehtar,