The P/Q-type Ca2+ channel α1A 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. Author Keywords: EEF1D; HSPF1; Polymorphic STR; PRKCA

A fine physical mapping map of the CACNA1A gene region on 19p13.1-p13.2 chromosome. Gene 241: 45-50 / Trettel, Flavia; Mantuano, E; Calabresi, V; Veneziano, L; Olsen, A; Georgescu, A; Gordon, L; Sabbadini, G; Frontali, M. AND JODICE C.. - In: GENE. - ISSN 0378-1119. - STAMPA. - 241:(2000), pp. 45-50. [10.1016/S0378-1119(99)00470-9]

A fine physical mapping map of the CACNA1A gene region on 19p13.1-p13.2 chromosome. Gene 241: 45-50.

TRETTEL, Flavia;
2000

Abstract

The P/Q-type Ca2+ channel α1A 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. Author Keywords: EEF1D; HSPF1; Polymorphic STR; PRKCA
EEF1D; HSPF1; Polymorphic STR; PRKCA
01 Pubblicazione su rivista::01a Articolo in rivista
A fine physical mapping map of the CACNA1A gene region on 19p13.1-p13.2 chromosome. Gene 241: 45-50 / Trettel, Flavia; Mantuano, E; Calabresi, V; Veneziano, L; Olsen, A; Georgescu, A; Gordon, L; Sabbadini, G; Frontali, M. AND JODICE C.. - In: GENE. - ISSN 0378-1119. - STAMPA. - 241:(2000), pp. 45-50. [10.1016/S0378-1119(99)00470-9]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/142042
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