Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.

ABSTRACT:

Purpose

To identify the spectrum of RB1 gene mutations in 114 Chinese patients with retinoblastoma.

Methods

Genomic DNA was extracted from the peripheral blood of 114 Rb patients. Polymerase chain reactions (PCRs) followed by direct Sanger sequencing were used to screen for mutations in the RB1 gene, which contains 26 exons with flanking intronic sequences, except exon 15. Clinical data, including gender, age at diagnosis, laterality of ocular lesions, and associated symptoms, were recorded and compared.

Results

We identified five novel mutations in the RB1 gene. Twenty-five other mutations found in this study have been previously reported. A higher rate of RB1 mutations, with 47.3% of mutations among bilaterally affected patients vs. 6.8% within unilaterally affected

SUBMITTER: Li L 

PROVIDER: S-EPMC9587959 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature