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Literature DB >> 1315122

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

A I McClatchey¹, J Trofatter, D McKenna-Yasek, W Raskind, T Bird, M Pericak-Vance, J Gilchrist, K Arahata, D Radosavljevic, H G Worthen.

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.

Entities: Chemical Disease Gene

Mesh：

Substances：
Sodium Channels

Year: 1992 PMID： 1315122 PMCID： PMC1682609

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

28 in total

1. Altered gating and conductance of Na+ channels in hyperkalemic periodic paralysis.

Authors: F Lehmann-Horn; P A Iaizzo; H Hatt; C Franke
Journal: Pflugers Arch Date: 1991-04 Impact factor: 3.657

2. Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

Authors: M C Koch; K Ricker; M Otto; T Grimm; K Bender; B Zoll; P S Harper; F Lehmann-Horn; R Rüdel; E P Hoffman
Journal: Hum Genet Date: 1991-11 Impact factor: 4.132

3. Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita.

Authors: P A Iaizzo; C Franke; H Hatt; W Spittelmeister; K Ricker; R Rüdel; F Lehmann-Horn
Journal: Neuromuscul Disord Date: 1991 Impact factor: 4.296

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Authors: M Noda; T Ikeda; H Suzuki; H Takeshima; T Takahashi; M Kuno; S Numa
Journal: Nature Date: 1986 Aug 28-Sep 3 Impact factor: 49.962

5. Precise localization of human beta-globin gene complex on chromosome 11.

Authors: J Gusella; A Varsanyi-Breiner; F T Kao; C Jones; T T Puck; C Keys; S Orkin; D Housman
Journal: Proc Natl Acad Sci U S A Date: 1979-10 Impact factor: 11.205

6. Membrane defects in paramyotonia congenita (Eulenburg).

Authors: F Lehmann-Horn; R Rüdel; K Ricker
Journal: Muscle Nerve Date: 1987-09 Impact factor: 3.217

7. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

Authors: L J Ptacek; F Tyler; J S Trimmer; W S Agnew; M Leppert
Journal: Am J Hum Genet Date: 1991-08 Impact factor: 11.025

8. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

Authors: L J Ptacek; J S Trimmer; W S Agnew; J W Roberts; J H Petajan; M Leppert
Journal: Am J Hum Genet Date: 1991-10 Impact factor: 11.025

9. A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.

Authors: C V Rojas; J Z Wang; L S Schwartz; E P Hoffman; B R Powell; R H Brown
Journal: Nature Date: 1991-12-05 Impact factor: 49.962

10. DNA sequencing with chain-terminating inhibitors.

Authors: F Sanger; S Nicklen; A R Coulson
Journal: Proc Natl Acad Sci U S A Date: 1977-12 Impact factor: 11.205

9 in total

1. The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.

Authors: A M Adeokun; S P West; F R Ellis; P J Halsall; P M Hopkins; A M Foroughmand; D E Iles; R L Robinson; A D Stewart; J L Curran
Journal: Am J Hum Genet Date: 1997-04 Impact factor: 11.025

2. Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.

Authors: J Wang; J Zhou; S M Todorovic; W G Feero; F Barany; R Conwit; I Hausmanowa-Petrusewicz; A Fidzianska; K Arahata; H B Wessel
Journal: Am J Hum Genet Date: 1993-06 Impact factor: 11.025

3. Haplotype studies in Wilson disease.

Authors: G R Thomas; P C Bull; E A Roberts; J M Walshe; D W Cox
Journal: Am J Hum Genet Date: 1994-01 Impact factor: 11.025

4. Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

Authors: C Meyer-Kleine; M Otto; B Zoll; M C Koch
Journal: Hum Genet Date: 1994-06 Impact factor: 4.132