Universidad Peruana Cayetano Heredia

Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population

Mostrar el registro sencillo del ítem

dc.contributor.author Gonzales-Sáenz, Claudia
dc.contributor.author Cruz-Rodriguez, Carolina
dc.contributor.author Espinoza Huertas, Keren Antonieta
dc.contributor.author Véliz-Otani, Diego
dc.contributor.author Marca, Victoria
dc.contributor.author Ortega, Olimpio
dc.contributor.author Milla-Neyra, Karina
dc.contributor.author Alvarez-Tejada, Jorge
dc.contributor.author Mazzetti, Pilar
dc.contributor.author Cornejo-Olivas, Mario
dc.date.accessioned 2020-07-14T00:01:12Z
dc.date.available 2020-07-14T00:01:12Z
dc.date.issued 2020
dc.identifier.uri https://hdl.handle.net/20.500.12866/8296
dc.description.abstract Spinocerebellar ataxia subtypes 1, 3, and 6 (SCA1, MJD/SCA3, and SCA6) are among the most prevalent autosomal dominant cerebellar ataxias worldwide, but their relative frequencies in Peru are low. Frequency of large normal (LN) alleles at spinocerebellar ataxia-causative genes has been proposed to be associated with disease prevalence. To investigate the allelic distribution of the CAG repeat in ATXN1, ATXN3, and CACNA1A genes in a Peruvian mestizo population and examine their association with the relative frequency of SCA1, MJD/SCA3, and SCA6 across populations. We genotyped 213 healthy mestizo individuals from Northern Lima, Peru, for ATXN1, ATXN3, and CACNA1A using polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE). We compared the frequency of LN alleles and relative disease frequency between populations. We also tested 40 samples for CAT repeat interruptions within the CAG tract of ATXN1. We found no association between disease frequency and population frequency of LN alleles at ATXN1 and ATXN3. All 40 ATXN1 samples tested for CAT interruptions were positive. Frequency of LN alleles at CACNA1A correlates with SCA6 frequency across several populations, but this effect was largely driven by data from a single population. Low frequency of SCA1 and MJD/SCA3 in Peru is not explained by frequency of LN alleles at ATXN1 and ATXN3, respectively. The observed correlation between CACNA1A LN alleles and SCA6 frequency requires further assessment. en_US
dc.language.iso eng
dc.publisher Springer
dc.relation.ispartofseries Cerebellum
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Peruvian en_US
dc.subject Large normal alleles en_US
dc.subject Spinocerebellar ataxias en_US
dc.subject Triplet repeats en_US
dc.title Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1007/s12311-020-01129-3
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.25
dc.relation.issn 1473-4230


Ficheros en el ítem

Ficheros Tamaño Formato Ver

No hay ficheros asociados a este ítem.

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem

info:eu-repo/semantics/restrictedAccess Excepto si se señala otra cosa, la licencia del ítem se describe como info:eu-repo/semantics/restrictedAccess

Buscar en el Repositorio


Listar

Panel de Control

Estadísticas