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Article

Amplification and characterization of the retinoblastoma gene VNTR by PCR.

American journal of human genetics - 1 Feb 1992

Scharf S J, Bowcock A M, McClure G, Klitz W, Yandell D W, Erlich H A

Abstract excerpt

VNTR regions are informative genetic markers for linkage mapping and individual identification. Using PCR, we have developed a procedure for the enzymatic amplification of the VNTR located in the 16th intron of the human retinoblastoma (RB1) gene. We have also prepared a nonisotopically labeled oligonucleotide probe which facilitates detection of the amplification products. In examining 250 individuals from four...

Topics

Alleles
Base Sequence
Blotting, Southern
DNA
Ethnicity
Gene Amplification
Genes, Retinoblastoma
Genetic Markers
Heterozygote
Humans
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 1734717
PMCID: PMC1682449

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1734717-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Amplification and characterization of the retinoblastoma gene VNTR by PCR.PMID 1734717Read ↗

Utilization of a polymorphic variable-number-tandem-repeat DNA region within the RB1 gene for early diagnosis of hereditary retinoblastoma.Semantic proximity Read ↗

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Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.Semantic proximity Read ↗

Five novel single nucleotide polymorphisms of the RB1 gene (g.5625T>C, g.70169T>G, g.76875A>T, g.78026delA, and g.150072T>C) in retinoblastoma patients.Semantic proximity Read ↗

A previously unknown polymorphism located within the RB1 locus only present in Asian individuals.Semantic proximity Read ↗

Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients.Semantic proximity Read ↗

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.Semantic proximity Read ↗

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