A CA-repeat polymorphism close to the adenomatous polyposis coli (APC) gene offers improved diagnostic testing for familial APC.

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Article

A CA-repeat polymorphism close to the adenomatous polyposis coli (APC) gene offers improved diagnostic testing for familial APC.

American journal of human genetics - 1 Feb 1993

Spirio L, Nelson L, Ward K, Burt R, White R, Leppert M

Abstract excerpt

Presymptomatic genetic testing for the presence of a mutant allele causing familial adenomatous polyposis coli (APC) has been difficult to perform effectively in the past because DNA markers surrounding the APC gene on chromosome 5q have not been very informative. We report results of genetic linkage studies on both research families and clinical families by using D5S346, a highly polymorphic dinucleotide...

Topics

Adenomatous Polyposis Coli
Chromosomes, Human, Pair 5
Electrophoresis, Polyacrylamide Gel
Female
Genes, APC
Genetic Carrier Screening
Genetic Linkage
Genetic Markers
Genetic Testing
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Nucleic Acid Denaturation

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Repetitive Sequences, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 8094265
PMCID: PMC1682209

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8094265-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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