Mitochondrial DNA control region diversity in a population from Parana state-increasing the Brazilian forensic database.

The entire mitochondrial DNA (mtDNA) control region (nucleotide position 16024-576) sequences were obtained through Sanger sequencing method for 122 individuals from Parana state, South of Brazil. We observed a total of 108 different haplotypes of which 97 were unique and 11 were shared by more than one individual. The haplogroups were classified according to the updated mtDNA phylogeny, by EMMA (estimating mitochondrial haplogroups using a maximum likelihood approach). Our results revealed the predominance of Amerindian haplogroups with a frequency of 49.2% of the population sample, followed by European lineages with 38.5% and 12.3% of African lineages. Parana population sample set presented a high haplotype diversity (0.9976) and the random match probability was 0.0106. The phylogenetical findings and the diversity indices confirm the high genetic heterogeneity of this population and suggest a high informativeness of mtDNA analyses in forensic cases. The population data will contribute to increase the Brazilian mtDNA database for forensic purposes and it is available through EMPOP (European DNA Profiling Group mitochondrial DNA population database) under the accession number EMP00714.

Butyrylcholinesterase activity and risk factors for coronary artery disease.

The aim of this study was to verify which risk factors for coronary artery disease (CAD) are independently correlated with butyrylcholinesterase (BChE) activity. We studied 88 White individuals (43 males) aged 47.3+/-15.7 years (mean+/-SD; range: 14.0-80.0 years) including 38 with hyperlipidemia, 30 with hypertension and 5 with diabetes mellitus (DM). Simple correlation analysis showed that BChE activity was positively correlated with age, sex, body mass index, hypertension and DM, as well as with triglycerides (TGs), total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B (Apo B). However, after a step-wise multiple regression analysis, the only risk factors for CAD that showed independent correlations with BChE activity were, in descending order of importance, Apo B, TGs and DM. Our findings seem to reinforce suggested associations of BChE activity with lipoprotein synthesis and with hypertension, as well as supporting previous data on the relation of BChE activity with disturbances found in diabetes mellitus.

HLA class I polymorphism, as characterised by PCR-SSOP, in a Brazilian exogamic population.

HLA-A, -B and -C genes were analysed in the population living in the metropolitan region of Curitiba, the main city of Parana State, southern Brazil, to provide data for studies and applications in HLA-related fields, and to contribute to the understanding of human microevolution. Heterozygosity is high (95-99%) for all three loci. Frequencies for most alleles and haplotypes of sub-Saharan African and of European ancestry presented a clear gradient between the White, Mulatto and Black subpopulations. Among Whites, the four most common haplotypes were A*01-Cw*07-B*0801, A*02-Cw*07-B*07, A*11-Cw*0401-B*35 and A*03-Cw*0401-B*35. Their frequencies ranged from 5.6% to 3.0%. In the Mulatto sub-population, six haplotypes presented very similar frequencies, close to 2.0-2.4%: A*02-Cw*03-B*15, A*02-Cw*0401-B*35, A*02-Cw*07-B*07, A*03-Cw*0401-B*35, A*30-Cw*17-B*4201, A*68-Cw*03-B*15. Haplotype A*30-Cw*17-B*4201 was found to be very common (6.6%) in the Black sub-population. Admixture estimate revealed the relative contributions of Europeans, sub-Saharan Africans and Amerindians to this populations which were, respectively, 94%, 3% and 3% for the White sub-population, 57%, 39% and 4% for the Mulatto sub-population, and 25%, 74% and 1% for the Black sub-population.