Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.

ABSTRACT:

Purpose

Retinoblastoma (RB), the most common intraocular tumor occurring in infancy and early childhood, is most often related to mutations in the RB1 gene. In this study, we screened the RB1 germline mutations in 41 unrelated Moroccan patients with retinoblastoma, 25 heritable cases, and 16 sporadic unilateral cases.

Methods

After complete ophthalmic examinations were performed and consent obtained, DNA was extracted from peripheral blood, and screening of RB1 mutations was performed with PCR direct sequencing of the promoter and the 27 coding exons of the RB1 gene.

Results

We identified ten germline mutations in 10/41 (24.39%) unrelated patients, among which three had not been previously reported. The mutation detection rate was 40% (10/25) in the heritable cases an

SUBMITTER: Abidi O 

PROVIDER: S-EPMC3250372 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature