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

Citation
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
Citations number
33
Categorie Soggetti
Medicine, Research & Experimental
ISSN journal
01884409
Volume
26
Year of publication
1995
Pages
69 - 75
Database
ISI
SICI code
0188-4409(1995)26:<69:MSOMDE>2.0.ZU;2-4
Abstract
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.