Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/41747
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | Ancient origin of the CAG expansion causing Huntington disease in a Spanish population |
Autor: | García-Planells, Javier; Burguera, Juan A.; Solís, Pilar; Millán, José M.; Ginestar, Millán; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | Palabras clave: | Huntingtin gene CAG trinucleotide repeat Land of Valencia Allele age Founder effect |
Fecha de publicación: | 2005 | Citación: | Human Mutation 25(5): 453-459(2005) | Resumen: | Huntington disease (HD, MIM# 143100) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal expansion of a CAG trinucleotide repeat in the first exon of the huntingtin gene in chromosome 4p16.3. HD is spread worldwide and it is generally accepted that few mutational events account for the origin of the pathogenic CAG expansion in most populations. We have investigated the genetic history of HD mutation in 83 family probands from the Land of Valencia, Eastern Spain. An analysis of the HD/CCG repeat in informative families suggested that at least two main chromosomes were associated in the Valencian population, one associated with allele 7 (77 mutant chromosomes) and one associated with allele 10 (2 mutant chromosomes). Haplotype A-7-A (H1) was observed in 47 out of 48 phase-known mutant chromosomes, obtained by segregation analysis, through the haplotype analysis of rs1313770-HD/CCGrs82334, as it also was in 120 out of 166 chromosomes constructed by means of the PHASE program. The genetic history and geographical distribution of the main haplotype H1 were both studied by constructing extended haplotypes with flanking STRs D4S106 and D4S3034. We found that we were able to determine the age of the CAG expansion associated with the haplotype H1 as being between 4,700 and 10,000 years ago. Furthermore, we observed a nonhomogenous distribution in the different regions associated with the different extended haplotypes of the ancestral haplotype H1, suggesting that local founder effects have occurred. | Descripción: | 25 p. Figuras, tablas, bibliografía | Versión del editor: | http://dx.doi.org/10.1002/humu.20167 | URI: | http://hdl.handle.net/10261/41747 | DOI: | 10.1002/humu.20167 | ISSN: | 1059-7794 | E-ISSN: | 1098-1004 |
Aparece en las colecciones: | (IBV) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
humu-2004-0355R2_Palau.pdf | Artículo principal | 76,45 kB | Adobe PDF | Visualizar/Abrir |
FIGURE1.TIF | Figura 1 | 1,62 MB | TIFF | Visualizar/Abrir |
FIGURE2.TIF | Figura 2 | 3,65 MB | TIFF | Visualizar/Abrir |
FIGURE3.TIF | Figura 3 | 3,16 MB | TIFF | Visualizar/Abrir |
FIGURE4.TIF | Figura 4 | 2,42 MB | TIFF | Visualizar/Abrir |
FIGURE5.TIF | Figura 5 | 3,69 MB | TIFF | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
5
checked on 12-abr-2024
SCOPUSTM
Citations
18
checked on 11-abr-2024
WEB OF SCIENCETM
Citations
18
checked on 23-feb-2024
Page view(s)
518
checked on 19-abr-2024
Download(s)
562
checked on 19-abr-2024
Google ScholarTM
Check
Altmetric
Altmetric
Artículos relacionados:
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.