Comparison of Rio de Janeiro DNA typing data with the FBI worldwide study

We analyzed 128 chromosomes for the D4S139 (pH30) locus and determined the allelic frequency of our sampling using the 31 fixed-bin key table. Using the frequency distribution of this locus in the different population database available, we compared our sample with eight distinct populations through scatter plot. Our result corroborates the notion that, in forensic science, there is no significant difference among polulations. We also typed 12 different individuals for four loci (D4S139, D1S7, D10S28, D2S44) and 3 profiles of three loci (D4S139, D1S7, D10S28). Individual genotype frequency was determined for each population. Whatever reference population database used, the result showed that each person has a very genotype frequency, ranging from 10E-11 to 10E-13, for four loci typing, and from 10E-07 to 10-E10, for three loci typing. As stated before, these results indicate that the statistical differences found among populations do not interfere in forensic science application and therefore, the use of a general population database will not produce a biased result.

Use of PCR for the determination of the frequency of the F508 mutation in Brasilian cistic fibrosis patients

The F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion