Literature DB >> 7916735

Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32.

R G Gregg1, F Couch, K Hogan, P A Powers.   

Abstract

A human clone corresponding to the gene encoding the alpha 1 subunit of the skeletal muscle dihydropyridine-sensitive calcium channel (CACNL1A3) has been isolated and partially sequenced. Oligonucleotides based on this sequence were used in a polymerase chain reaction to amplify specifically the human gene in human-rodent somatic cell hybrids, allowing the assignment of CACNL1A3 to chromosome 1. A polymorphic dinucleotide repeat also was identified in the human clone and using PCR was typed on a subset of the CEPH families. Multipoint linkage analysis places the CACNL1A3 gene between D1S52 and D1S70, on chromosome 1q31-q32.

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Year:  1993        PMID: 7916735     DOI: 10.1006/geno.1993.1017

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  6 in total

1.  Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication.

Authors:  D L Burgess; C F Davis; L A Gefrides; J L Noebels
Journal:  Genome Res       Date:  1999-12       Impact factor: 9.043

2.  Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

Authors:  R H Boerman; R A Ophoff; T P Links; R van Eijk; L A Sandkuijl; A Elbaz; J E Vale-Santos; A R Wintzen; J C van Deutekom; D E Isles
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

3.  Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

Authors:  A Elbaz; J Vale-Santos; K Jurkat-Rott; P Lapie; R A Ophoff; B Bady; T P Links; C Piussan; A Vila; N Monnier
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

4.  Microsatellite-based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414.

Authors:  A Sander; J C Murray; T Scherpbier-Heddema; K H Buetow; J Weissenbach; M Zingg; K Ludwig; R Schmelzle
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

5.  Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

Authors:  R Sudbrak; V Procaccio; M Klausnitzer; J L Curran; K Monsieurs; C van Broeckhoven; R Ellis; L Heyetens; E J Hartung; G Kozak-Ribbens
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

6.  Cardiac and skeletal muscle troponin I isoforms are encoded by a dispersed gene family on mouse chromosomes 1 and 7.

Authors:  J L Guenet; D Simon-Chazottes; M Gravel; K E Hastings; S Schiaffino
Journal:  Mamm Genome       Date:  1996-01       Impact factor: 2.957

  6 in total

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