Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.

ABSTRACT:

Purpose

The availability of molecular genetic testing for retinoblastoma (RB) in Malaysia has enabled patients with a heritable predisposition to the disease to be identified, which thus improves the clinical management of these patients and their families. In this paper, we presented our strategy for performing molecular genetic testing of the RB1 gene and the findings from our first 2 years of starting this service.

Methods

The peripheral blood of 19 RB probands, including seven bilateral and 12 unilateral cases, was obtained, and genomic DNA was extracted. Analysis of the RB1 exons and the promoter region was conducted first using PCR and direct sequencing. Next, multiplex ligation-dependent probe amplification (MLPA) analysis was performed for patients whom the first res

SUBMITTER: Mohd Khalid MK 

PROVIDER: S-EPMC4605750 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature