A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci.

doi:10.1093/hmg/2.4.431

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Article

A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci.

Human molecular genetics - 1 Apr 1993

Mahtani M M, Willard H F

Abstract excerpt

We report a high rate of new mutation at a short tandem repeat sequence polymorphism (STR, microsatellite) at locus DXS981 on the proximal long arm of the human X chromosome. Among individuals of the CEPH pedigrees, new allele lengths are detected at this tetranucleotide repeat with a frequency o...

Topics

Alleles
Base Sequence
Chromosome Mapping
DNA
DNA Mutational Analysis
Female
Genetic Variation
Humans
Linkage Disequilibrium
Male
Molecular Sequence Data
Oligodeoxyribonucleotides
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
X Chromosome

Source

Open in PubMed

Identifiers

PMID: 8504304
DOI: 10.1093/hmg/2.4.431

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8504304-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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