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
F. Salamanca et al., 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, Archives of medical research, 26, 1995, pp. 69-75
Molecular studies using polymerase chain reaction (PCR) and restrictio
n 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 th
ese methodologies in the precise identification of mutational changes,
in carrier detection and in the understanding of neoplasic transforma
tions, as well as its applications in genetic counseling and prenatal
diagnosis, are discussed. In addition, genetic polymorphisms in the be
ta globin gene cluster and in mtDNA were investigated. All these studi
es, the first performed in our population, contribute to establish the
genetic origin and to a better characterization of the Mexican popula
tion.