- Auteur(s) : Amina Boubekeur, Lotfi Louhibi, Khadidja Mahmoudi, Abdallah Boudjema, Nadhira Mehtar
- Mots-clés : retinoblastoma, tumor,
<i>Rb</i> gene, mutation, HPLC, PCR sequencing, molecular diagnosis
- Page(s) : 127-35
- DOI : 10.1684/bdc.2011.1529
- Année de parution : 2012
Résumé : 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.