title: Molecular studies of Mendelian disorders, embryonic neoplasias, and polymorphisms in selected samples of the general population. A contribution to the genetic characterization of the Mexican population.
abstract: Molecular studies using polymerase chain reaction (PCR) and restriction enzymes, as well as intragenic STRs and newly designed primers, were performed in patients with Duchenne-Becker muscular dystrophy, sickle cell anemia, retinoblastoma, and nephroblastoma. The usefulness of these methodologies in the precise identification of mutational changes, in carrier detection and in the understanding of neoplastic transformations, as well as its applications in genetic counseling and prenatal diagnosis, are discussed. In addition, genetic polymorphisms in the beta globin gene cluster and in mtDNA were investigated. All these studies, the first performed in our population, contribute to establish the genetic origin and to a better characterization of the Mexican population.
authors.affiliation: Unidad de Investigación en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, México, D.F.
authors.forename: F
authors.initials: F
authors.lastname: Salamanca
authors.forename: R
authors.initials: R
authors.lastname: Coral
authors.forename: R
authors.initials: R
authors.lastname: Peñaloza
authors.forename: D
authors.initials: D
authors.lastname: Arenas
authors.forename: M
authors.initials: M
authors.lastname: González
authors.forename: C
authors.initials: C
authors.lastname: Barrientos
authors.forename: L
authors.initials: L
authors.lastname: Buentello
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D030342:Genetic Diseases, Inborn / Q000208:ethnology / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D007223:Infant; D008297:Male; D008800:Mexico / Q000208:ethnology; D008957:Models, Genetic; D009369:Neoplasms / Q000208:ethnology / Q000235:genetics*; D011110:Polymorphism, Genetic