Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients.
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.
Leone
Paola E
PE
Laboratorio de Genética Molecular y Citogenética Humana, Escuela de Ciencias Biológicas, Pontificia Universidad Católica del Ecuador, PO Box 17-1-2184, Quito, Ecuador. pleone@puce.edu.ec.|Unidad de Genética, Facultad de Medicina, Pontificia Universidad Católica del Ecuador, Quito, Ecuador. pleone@puce.edu.ec.
Vega
María Elena
ME
Unidad de Genética, Facultad de Medicina, Pontificia Universidad Católica del Ecuador, Quito, Ecuador.
Jervis
Paola
P
Unidad de Genética, Facultad de Medicina, Pontificia Universidad Católica del Ecuador, Quito, Ecuador.
Pestaña
Angel
A
OncoLab, Unidad de Biología Molecular y Celular del Cáncer, Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, Madrid, Spain.
Alonso
Javier
J
OncoLab, Unidad de Biología Molecular y Celular del Cáncer, Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, Madrid, Spain.
Paz-Y-Miño
César
C
Laboratorio de Genética Molecular y Citogenética Humana, Escuela de Ciencias Biológicas, Pontificia Universidad Católica del Ecuador, PO Box 17-1-2184, Quito, Ecuador.|Unidad de Genética, Facultad de Medicina, Pontificia Universidad Católica del Ecuador, Quito, Ecuador.
D019992:Databases as Topic; D004484:Ecuador; D005091:Exons; D005134:Eye Neoplasms / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007438:Introns; D009154:Mutation; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D012175:Retinoblastoma / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*; D017422:Sequence Analysis, DNA
D016160:Retinoblastoma Protein