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Article

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.

American journal of human genetics - 1 May 1992

McClatchey A I, Trofatter J, McKenna-Yasek D, Raskind W, Bird T, Pericak-Vance M, Gilchrist J, Arahata K, Radosavljevic D, Worthen H G

Abstract excerpt

Two polymorphic dinucleotide repeats--one (dGdA)n and one (dGdT)n--have been identified at the SCN4A locus, encoding the alpha-subunit of the adult skeletal muscle sodium channel. When typed using PCR, the dinucleotide repeats display 4 and 10 alleles, respectively, with a predicted heterozygosity of .81 for the combined haplotype. We have applied these polymorphisms to the investigation of hyperkalemic periodic...

Topics

Alleles
Base Sequence
Genetic Linkage
Haplotypes
Humans
Hyperkalemia
Molecular Sequence Data
Mutation
Myotonia Congenita
Paralyses, Familial Periodic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymorphism, Genetic

Repetitive Sequences, Nucleic Acid

Sodium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 1315122
PMCID: PMC1682609

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1315122-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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