Document Detail


Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.
MedLine Citation:
PMID:  1315122     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
A I McClatchey; J Trofatter; D McKenna-Yasek; W Raskind; T Bird; M Pericak-Vance; J Gilchrist; K Arahata; D Radosavljevic; H G Worthen
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  50     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1992 May 
Date Detail:
Created Date:  1992-05-26     Completed Date:  1992-05-26     Revised Date:  2010-09-07    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  896-901     Citation Subset:  IM    
Affiliation:
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown 02129.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/M85045;  M85046;  S37423;  S90825
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MeSH Terms
Descriptor/Qualifier:
Alleles*
Base Sequence
Haplotypes
Humans
Hyperkalemia / genetics
Linkage (Genetics) / genetics
Molecular Sequence Data
Mutation / genetics
Myotonia Congenita / genetics*
Paralyses, Familial Periodic / genetics*
Pedigree
Polymorphism, Genetic / genetics
Repetitive Sequences, Nucleic Acid*
Sodium Channels / genetics*
Grant Support
ID/Acronym/Agency:
NS22224/NS/NINDS NIH HHS; NS24279/NS/NINDS NIH HHS; NS26630/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Sodium Channels
Comments/Corrections
Comment In:
Am J Hum Genet. 1992 May;50(5):887-91   [PMID:  1570841 ]
Erratum In:
Am J Hum Genet. 1992 Oct;51(4):942   [PMID:  1415245 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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