Analysis of the RB1 gene in patients with retinoblastoma in the Algerian population

Abstract

Abstract 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 constitutional and tumoral RB1 analysis in an 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 3 nonsense mutations, 1 mutation affecting splice site, 1 deletion and 2 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 2 mutations have not been previously reported.

Keywords

• Retinoblastoma
• tumor
• Rb gene
• mutation
• HPLC
• PCR sequencing