Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.

ABSTRACT:

Purpose

Retinoblastoma (Rb) is a rare and unique eye cancer that usually develops in the retinas of children less than 5 years old due to mutations in the RB1 gene. About 40% of affected individuals have the heritable form making genetics testing of the RB1 gene important for disease management. This study aims to identify germline mutations in RB1 in a cohort of patients with Rb from northern Vietnam.

Methods

Genomic DNA was extracted from peripheral blood of 34 patients with Rb (nine unilateral and 25 bilateral cases) and their available parents. Twenty-seven exons, flanking sequences, and the promoter region of RB1 gene were screened for mutations with direct PCR sequencing. Multiplex ligation-dependent probe amplification (MLPA) was applied fo

SUBMITTER: Nguyen HH 

PROVIDER: S-EPMC5858657 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature