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

A. I. McClatchey, J. Trofatter, D. McKenna-Yasek, W. Raskind, T. Bird, M. Pericak- Vance, J. Gilchrist, K. Arahata, D. Radosavljevic, H. G. Worthen, P. Van den Bergh, J. L. Haines, J. F. Gusella, R. H. Brown

Research output: Contribution to journalArticlepeer-review

48 Scopus citations

Abstract

Two polymorphic dinucleotide repeats - one (dGdA)n and one (dGdT)n - have been identified at the SCN4A locus, encoding the α-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 paralysis and paramyotonia congenita, distinct neuromuscular disorders both of which are thought to involve mutation at SCN4A. Our data confirm the genetic linkage of both disorders with SCN4A. Haplotype analysis also indicates the strong likelihood of allelic heterogeneity in both disorders.

Original languageEnglish (US)
Pages (from-to)896-901
Number of pages6
JournalAmerican journal of human genetics
Volume50
Issue number5
StatePublished - 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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