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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular study of retinoblastoma in the Algerian population. Screening of Rb gene in constitutional and tumoral level
Bulletin du Cancer, Volume 99, No. 2, Year 2012
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Description
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 21 patients. Germline abnormalities were found in 2/21 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 21 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. ©John Libbey Eurotext.
Authors & Co-Authors
Boubekeur, Amina M.
Algeria, Oran
Université Des Sciences et de la Technologie D’oran Mohamed-boudiaf
Louhibi, Lotfi
Algeria, Oran
Université Des Sciences et de la Technologie D’oran Mohamed-boudiaf
Mahmoudi, Khadidja
Algeria, Oran
Ehs Canastel -oran
Boudjema, Abdallah
Algeria, Oran
Université Des Sciences et de la Technologie D’oran Mohamed-boudiaf
Saïdi-Mehtar, Nadhira
Algeria, Oran
Université Des Sciences et de la Technologie D’oran Mohamed-boudiaf
Statistics
Citations: 9
Authors: 5
Affiliations: 2
Identifiers
Doi:
10.1684/bdc.2011.1529
ISSN:
00074551
e-ISSN:
17696917
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study