Genotype frequencies at codon 129 of the prion protein gene in Brazil: Implications in susceptibility to variant Creutzfeldt-Jakob disease compared to European and Asian populations.

A polymorphism at codon 129 of the prion protein gene has been shown to confer genetic susceptibility to prion diseases, and to influence the epidemic course of variant Creutzfeldt-Jakob disease. We employed a PCR-endonuclease digestion-based assay to investigate this genetic trait in Brazil, and then compared our results to previously published data from several European and Asian countries.

Tyr204Phe and Val34Leu polymorphisms in two Brazilian ethnic groups and in patients with recurrent miscarriages.

This study investigated the prevalence of Tyr204Phe and Val34Leu polymorphisms in two Brazilian ethnic groups (171 Caucasians and 27 Blacks, and 117 men and 81 women) and in patients with recurrent miscarriages (RM) (86 women: 53 Caucasians and 33 Blacks). Study groups were matched to control groups by race and age. The prevalence of these polymorphisms did not differ between patients with RM and controls or between Caucasian and blacks, suggesting that these polymorphisms cannot be considered a risk factor for RM.

Genetic variability of platelet glycoprotein Ibalpha gene.

Platelet membrane glycoprotein (GP) Ibalpha is a critical component of platelet adhesion complex to subendothelium structures following tissue injury or pathological surfaces, such as atherosclerotic plaques. Polymorphisms of the GPIbalpha gene have been associated with a high risk for occlusive vascular disease, and its distribution varies considerably among distinct populations. These polymorphisms comprise the human platelet antigen (HPA)-2 system, the -5C/T dimorphism of the Kozak sequence, and the variable number of tandem 39-bp repeats (VNTR).