Hepatocellular carcinoma and liver cirrhosis TP53 mutation analysis reflects a moderate dietary exposure to aflatoxins in Espírito Santo State, Brazil.

The close relationship between aflatoxins and 249ser TP53 gene mutation (AGG to AGT, Arg to Ser) in hepatocellular carcinoma (HCC) makes this mutation an indirect indicator of dietary contamination with this toxin. We have examined the prevalence of codon 249 TP53 mutation in 41 HCC and 74 liver cirrhosis (without HCC) cases diagnosed at the HUCAM University Hospital in Vitoria, Espírito Santo State, Brazil. DNA was extracted from paraffin sections and from plasma.

Simplified buccal DNA extraction with FTA Elute Cards.

DNA isolation is the initial step of most genetic studies, and ideally it should use a reliable and non-invasive method. Buccal samples are adequate for such purposes, being painless, easy to collect and a very reliable DNA source. FTA Elute Cards are relatively new on the market and are designed for rapid blood DNA extraction, in which DNA is solubilized in water, instead of attached to the paper matrix.

Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population.

There is a current lack of molecular studies analyzing the behavior of trinucleotide repeat expansions causative of Late Onset Spinocerebellar Ataxias in the Brazilian population. Therefore, this manuscript analyses normal families, as well as one hundred normal individuals of the Espirito Santo State to determine the trinucleotide repeat behavior and the allelic frequencies found in this population. The analysis of normal families demonstrated that, instead of being always stably transmitted over generations, expansions can occur between two generations of unaffected individuals, possibly contributing for the appearance of the ataxic phenotype.