Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.
Publication
, Journal Article
McClatchey, AI; Trofatter, J; McKenna-Yasek, D; Raskind, W; Bird, T; Pericak-Vance, M; Gilchrist, J; Arahata, K; Radosavljevic, D; Worthen, HG
Published in: Am J Hum Genet
May 1992
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.
Duke Scholars
Published In
Am J Hum Genet
ISSN
0002-9297
Publication Date
May 1992
Volume
50
Issue
5
Start / End Page
896 / 901
Location
United States
Related Subject Headings
- Sodium Channels
- Repetitive Sequences, Nucleic Acid
- Polymorphism, Genetic
- Pedigree
- Paralyses, Familial Periodic
- Myotonia Congenita
- Mutation
- Molecular Sequence Data
- Hyperkalemia
- Humans
Citation
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MLA
NLM
McClatchey, A. I., Trofatter, J., McKenna-Yasek, D., Raskind, W., Bird, T., Pericak-Vance, M., … Worthen, H. G. (1992). Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am J Hum Genet, 50(5), 896–901.
McClatchey, A. I., J. Trofatter, D. McKenna-Yasek, W. Raskind, T. Bird, M. Pericak-Vance, J. Gilchrist, K. Arahata, D. Radosavljevic, and H. G. Worthen. “Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.” Am J Hum Genet 50, no. 5 (May 1992): 896–901.
McClatchey AI, Trofatter J, McKenna-Yasek D, Raskind W, Bird T, Pericak-Vance M, et al. Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am J Hum Genet. 1992 May;50(5):896–901.
McClatchey, A. I., et al. “Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.” Am J Hum Genet, vol. 50, no. 5, May 1992, pp. 896–901.
McClatchey AI, Trofatter J, McKenna-Yasek D, Raskind W, Bird T, Pericak-Vance M, Gilchrist J, Arahata K, Radosavljevic D, Worthen HG. Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am J Hum Genet. 1992 May;50(5):896–901.
Published In
Am J Hum Genet
ISSN
0002-9297
Publication Date
May 1992
Volume
50
Issue
5
Start / End Page
896 / 901
Location
United States
Related Subject Headings
- Sodium Channels
- Repetitive Sequences, Nucleic Acid
- Polymorphism, Genetic
- Pedigree
- Paralyses, Familial Periodic
- Myotonia Congenita
- Mutation
- Molecular Sequence Data
- Hyperkalemia
- Humans