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Medical genetics is a field marked by fast progress. Even though it was at one point confined to a group of relatively rare diseases, today it has become a central component in the understanding of disorders and it is the subject of interest for all medical specialties. This paper, shares data on the chromosomal alterations and variations that have been diagnosed in Ecuadorian patients since 1998. A total of 2,636 individual cases have been analyzed by G-banding technique until February 2012. The present work shows this collection of data and the important findings that have appeared throughout these years in hopes that it can contribute to have a deeper understanding of the incidence of chromosomal aberrations and alterations in the Ecuadorian population.

The northeastern Ecuadorian border has undergone aerial spraying with an herbicide mix that contains surfactants and adjuvants, executed by the Colombian Government. The purpose of this study was to diagnose social, health, and genetic aspects of the people affected by glyphosate. For this objective to be achieved, 144 people were interviewed, and 521 medical diagnoses and 182 peripheral blood samples were obtained. Genotyping of GSTP1 Ile105Val, GPX-1 Pro198Leu, and XRCC1 Arg399Gln polymorphisms were analyzed, using PCR-RFLP technique. The assessment of chromosomal aberrations was performed, obtaining 182 karyotypes. Malnutrition in children was 3%. Of the total population, 7.7% had children with malformations, and the percentage of abortions was 12.7%. Concerning genotyping, individuals with GSTP1 Val/Val obtained an odds ratio of 4.88 (p < 0.001), and Ile/Val individuals, together with Val/Val individuals, had an odds ratio of 2.6 (p < 0.05). In addition, GPX-1 Leu/Leu individuals presented an odds ratio (OR) of 8.5 (p < 0.05). Regarding karyotyping, the 182 individuals had normal karyotypes. In conclusion, the study population did not present significant chromosomal and DNA alterations. The most important social impact was fear. We recommend future prospective studies to assess the communities.

Introduction The main objective of this study is to determine the prevalence of apolipoprotein E ( Apo E ) and glutathione peroxidase 1 ( GPX1 ) polymorphisms and their influence on the development of Alzheimer disease (AD) in the Ecuadorian population. Methods The authors performed an analytic transversal case-control study. The study group (n = 39) consisted of patients with AD and dementia. The control group (n = 39) comprised elderly adults who have not been diagnosed with dementia and have the same age and education as the study group. Their inclusion period was from 2007 to 2008. Later on, after obtaining informed consent and after finishing a structural interview; the next step forward was to collect blood and extract DNA by standardized protocols. Besides, the authors performed polymerase chain reaction-restriction fragment length polymorphism technique to determine the genotype of each individual. Results The authors found a positive association between e 4 and e 2 alleles of Apo E . The GPX1 gene shows an association of leu allele, whereas pro allele shows a negative association. The odds ratio test shows no significant relative risk. Conclusions Apo E is not a risk factor, nor a protective one for AD, whereas the leu allele of GPX1 is a possible risk factor for the disease.