A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome

Flavia Trettel, Elide Mantuano, Valentina Calabresi, Liana Veneziano, Anne S. Olsen, Anca Georgescu, Laurie Gordon, Guglielmo Sabbadini, Marina Frontali, Carla Jodice

Research output: Contribution to journalArticlepeer-review

Abstract

The P/Q-type Ca2+ channel α(1A) subunit gene (CACNA1A) was cloned on the short arm of chromosome 19 between the markers D19S221 and D19S179 and found to be responsible for Episodic Ataxia type 2, Familial Hemiplegic Migraine and Spinocerebellar Ataxia type 6. This region was physically mapped by 11 cosmid contigs spanning about 1.4 Mb, corresponding to less than 70% of the whole region. The cosmid contig used to characterize the CACNA1A gene accounted only for the coding region of the gene lacking, therefore, the promoter and possible regulation regions. The present study improves the physical map around and within the CACNA1A by giving a complete cosmid or BAC contig coverage of the D19S221-D19S179 interval. A number of new STSs, whether polymorphic or not, were characterized and physically mapped within this region. Four ESTs were also assigned to cosmids belonging to specific contigs. (C) 2000 Elsevier Science B.V. All rights reserved.

Original languageEnglish
Pages (from-to)45-50
Number of pages6
JournalGene
Volume241
Issue number1
DOIs
Publication statusPublished - Jan 4 2000

Keywords

  • EEF1D
  • HSPF1
  • Polymorphic STR
  • PRKCA

ASJC Scopus subject areas

  • Genetics

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