Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita
Affiliations
- PMID: 1315122
- PMCID: PMC1682609
Item in Clipboard
Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita
Am J Hum Genet.
1992 May.
Erratum in
-
Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.Am J Hum Genet. 1992 Oct;51(4):942. Am J Hum Genet. 1992. PMID: 1415245 Free PMC article. No abstract available.
Abstract
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 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.
Comment in
-
Phenotypic heterogeneity and the single gene.Am J Hum Genet. 1992 May;50(5):887-91. Am J Hum Genet. 1992. PMID: 1570841 Free PMC article. No abstract available.
Similar articles
-
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.Eur J Hum Genet. 1994;2(2):110-24. doi: 10.1159/000472351. Eur J Hum Genet. 1994. PMID: 8044656
-
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.Hum Genet. 1991 Nov;88(1):71-4. doi: 10.1007/BF00204932. Hum Genet. 1991. PMID: 1660029
-
Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.Am J Hum Genet. 1992 Oct;51(4):942. Am J Hum Genet. 1992. PMID: 1415245 Free PMC article. No abstract available.
-
[Molecular genetics of sodium channel myopathies].Bratisl Lek Listy. 1997 Dec;98(12):701-7. Bratisl Lek Listy. 1997. PMID: 9525070 Review. Slovak.
-
[Familial hyperkalemic periodic paralysis: a brief review of the adult human skeletal muscle sodium channel and the application of LA-PCR to the SCN4A gene analysis].Nihon Rinsho. 1997 Dec;55(12):3253-8. Nihon Rinsho. 1997. PMID: 9436446 Review. Japanese.
Cited by
-
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).Hum Genet. 1994 Nov;94(5):551-6. doi: 10.1007/BF00211025. Hum Genet. 1994. PMID: 7959693
-
Haplotype studies in Wilson disease.Am J Hum Genet. 1994 Jan;54(1):71-8. Am J Hum Genet. 1994. PMID: 8279472 Free PMC article.
-
Myasthenic syndrome caused by mutation of the SCN4A sodium channel.Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. doi: 10.1073/pnas.1230273100. Epub 2003 May 23. Proc Natl Acad Sci U S A. 2003. PMID: 12766226 Free PMC article.
-
Haplotypes and mutations in Wilson disease.Am J Hum Genet. 1995 Jun;56(6):1315-9. Am J Hum Genet. 1995. PMID: 7762553 Free PMC article.
-
Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.Hum Genet. 1994 Jun;93(6):707-10. doi: 10.1007/BF00201577. Hum Genet. 1994. PMID: 8005599
References
Publication types
MeSH terms
Substances
Associated data
- Actions
- Actions
- Actions
- Actions
Grants and funding
LinkOut - more resources
Full Text Sources