Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2003-11-19

AUTHORS

Paola E. Leone, María Elena Vega, Paola Jervis, Angel Pestaña, Javier Alonso, César Paz-y-Miño

ABSTRACT

RB1 is the gene responsible for retinoblastoma, the most common malignant intraocular tumor of infancy and early childhood. There are no reports about this gene in Ecuadorian populations, and only a few studies have been published in Latin America about this subject. There is a spectrum of more than 370 mutations described in the RB1 gene mutation database (http://www.d-lohmann.de/Rb/mutations.html), and alterations have been found in 25 of the 27 exons. During the exon-by-exon analysis of 31 tumor and blood samples from Ecuadorian patients, we found two new mutations and three novel polymorphisms. One of the polymorphisms is located in intron 26 where no alterations of the gene have been described previously. The polymorphisms were found in all of the patients’ tumor samples, but not in normal population, suggesting there might be a relationship between these polymorphisms and the development of retinoblastoma in the Ecuadorian population. More... »

PAGES

639-641

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10038-003-0092-5

DOI

http://dx.doi.org/10.1007/s10038-003-0092-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010476150

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/14625809


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