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Article

A possible hot spot in exon 21 of the retinoblastoma gene predisposing to a low penetrant retinoblastoma phenotype?

Ophthalmic genetics - 1 Dec 1999

Ahmad N N, Melo M B, Singh A D, Donoso L A, Shields J A

Abstract excerpt

PURPOSE: To identify the mutation in the RB1 gene in a Syrian family showing incomplete penetrance of retinoblastoma (RB). METHODS: Genomic DNA was used as a template for the PCR reaction to amplify all exons as well as the promoter region of RB1 gene. These PCR products were screened by conformational sensitive gel electrophoresis and the 331-bp product containing exon 21 showing anomalous migration was...

Topics

Adult
Amino Acid Substitution
Child
DNA
DNA Mutational Analysis
Exons
Family Health
Female
Genes, Retinoblastoma
Genetic Predisposition to Disease
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Middle Aged

Mutation

Pedigree

Phenotype

Point Mutation

Source

Identifiers

PMID: 10617920
DOI: 10.1076/opge.20.4.225.2269

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