title: Study of polymorphisms in theTP53andRB1genes in children with retinoblastoma in northern Mexico.
abstract: To determine the frequency and association of polymorphisms in theTP53andRB1genes with clinical characteristics in a group of children with retinoblastoma (RB) in northern Mexico.
  
  
  
  A prospective, longitudinal, and analytical study of 11 patients diagnosed with RB was conducted. Endpoint PCR and high-resolution real-time PCR were performed. Chi-square and Studentttests were used to evaluate associations between variables. Allelic frequencies, as well as genotypic and Hardy-Weinberg equilibriums, were evaluated using Guo and Thompson's method.
  
  
  
  We found a statistically significant difference between the polymorphism RB1-GG/rs9568036 and tumor chemoresistance (p<0.05). The allelic variants RB1-AA and AG/rs9568036 were determined to be associated with tumor chemosensitivity (p<0.05). A statistically significant relation between the polymorphism RB1-GG/rs9568036 and males (p = 0.0386), rate ratio (RR) = 2.0 (95% confidence interval [CI] = 0.76-5.32), as well as between the allelic variants RB1-AA and AG/rs9568036 and females (p = 0.0027), RR = 8.0 (95% CI = 1.28-50.04), was observed. We also observed a statistically significant association between the rs1042522 polymorphism in theTP53gene and unilateral presentation of the disease.
  
  
  
  The rs9568036 polymorphism in theRB1gene and the allelic variants can be associated with type of response to medical therapy and associated with male sex, while the allelic variant rs1042522 polymorphism in theTP53gene is associated with the unilateral presentation of the disease in a group of Mexican children with RB.
authors.affiliation: Retina Deparment, Instituto de la Visión, Hospital La Carlota, Montemorelos, Nuevo León, México.
authors.forename: Edwin J
authors.initials: EJ
authors.lastname: Anaya-Pava
authors.affiliation: Department of Pediatric Gastroenterology, High Specialty Medical Unit No. 71, Mexican Institute of Social Security, Torreón, Coahuila, México.
authors.forename: Jesús
authors.initials: J
authors.lastname: Nares-Cisneros
authors.affiliation: Departament of Ophthalmology, High Specialty Medical Unit No. 71, Mexican Institute of Social Security, Torreón, Coahuila, México.
authors.forename: Rubén I
authors.initials: RI
authors.lastname: Cárdenas-Hernández
authors.affiliation: Department of General Pathology and Health Research Division, High Specialty Medical Unit No. 71, Mexican Institute of Social Security Torreón, Coahuila, México.
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Jaramillo-Rodríguez
authors.affiliation: Laboratory of Molecular Stomatology, Faculty of Dentistry, Juarez University of Durango State, Durango, Durango, México.
authors.forename: Graciela
authors.initials: G
authors.lastname: Zambrano-Galván
mesh_terms: D002648:Child; D002675:Child, Preschool; D004273:DNA, Neoplasm / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008800:Mexico; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012175:Retinoblastoma / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D016160:Retinoblastoma Protein; D016159:Tumor Suppressor Protein p53