PIMA: A population informative multiplex for the Americas.

We describe an ancestry-informative autosomal SNP multiplex designed to be a small-scale, flexible panel that can complement uniparental markers in assessing the American variability (i.e. pre-Colombian) found in contemporary indigenous American populations.

[Study of the association between the polymorphism of the TNF-α gene and prostate cáncer].

Background: Prostate cancer is the third cause of cancer death in men in the Western hemisphere and the second cause of cancer death in Zulian men from Venezuela.

Objective: To determine whether polymorphisms 308 and 238 of the tumor necrosis factor alpha (TNF-α) gene are associated with prostate cancer.

Methods: The DNA that was extracted from the peripheral blood of 40 patients with prostatic specific antigen and 40 controls was amplified by PCR plus digestion with enzymes NcoI and MspI.

Distribution of GSTM1, GSTT1, GSTP1 and TP53 disease-associated gene variants in native and urban Venezuelan populations.

The contemporary Venezuelan population is the product of major admixture process across various historical events, which has provided it a particular genetic background. The aim of this study concerns the analysis of glutathione S-transferase (GST) GSTM1, GSTP1 and GSTT1 genetic variants and five polymorphisms at the TP53 gene, which are related to cancer susceptibility, in an urban/admixed population and five Amerindian tribes (Bari, Panare, Pemon, Warao and Wayuu) from Venezuela. Genotyping was carried out in 120 individuals from an urban sample and 188 Amerindians.

Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with turner syndrome.

Background: It is possible that genes on the X chromosome are expressed differently depending of its parental origin. The objective of this study was to determine the influence of the parental origin of the X-chromosome on phenotypic variability, response to rhGH and on the biochemical profile of TS patients.

Methods: This was a cross-sectional multicenter correlational study carried out over three years in six Latin-American university hospitals.