17 Y-STR haplotype diversity in São Paulo state (southeast of Brazil).

A sample of 158 Brazilian males from São Paulo (SP), Brazilian southeast, was typed for 17 Y-STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, YGATA_H4.1, and DYS385ab). A total of 158 haplotypes were identified, of which all were unique. The haplotype diversity and discrimination capacity were calculated in 1.0 and the genetic diversity was 67.4%. Pairwise haplotype distances showed that the São Paulo population is not significantly different from Rio de Janeiro and Portugal, but is different from African and Native American.

A segment of rbcL gene as a potential tool for forensic discrimination of Cannabis sativa seized at Rio de Janeiro, Brazil.

Cannabis sativa, known by the common name marijuana, is the psychoactive drug most widely distributed in the world. Identification of Cannabis cultivars may be useful for association to illegal crops, which may reveal trafficking routes and related criminal groups. This study provides evidence for the performance of a segment of the rbcL gene, through genetic signature, as a tool for identification for C. sativa samples apprehended by the Rio de Janeiro Police, Brazil. The PCR amplified and further sequenced the fragment of approximately 561 bp of 24 samples of C. sativa rbcL gene and showed the same nucleotide sequences, suggesting a possible genetic similarity or identical varieties. Comparing with other Cannabaceae family sequences, we have found 99% of similarity between the Rio de Janeiro sequence and three other C. sativa rbcL genes. These findings suggest that the fragment utilized at this study is efficient in identifying C. sativa samples, therefore, useful in genetic discrimination of samples seized in forensic cases.

Epidermal growth factor receptor gene polymorphisms are associated with prognostic features of breast cancer.

BACKGROUND: The epidermal growth factor receptor (EGFR) is differently expressed in breast cancer, and its presence may favor cancer progression. We hypothesized that two EGFR functional polymorphisms, a (CA)n repeat in intron 1, and a single nucleotide polymorphism, R497K, may affect EGFR expression and breast cancer clinical profile. METHODS: The study population consisted of 508 Brazilian women with unilateral breast cancer, and no distant metastases. Patients were genotyped for the (CA)n and R497K polymorphisms, and the associations between (CA)n polymorphism and EGFR transcript levels (n = 129), or between either polymorphism and histopathological features (n = 505) were evaluated. The REMARK criteria of tumor marker evaluation were followed. RESULTS: (CA)n lengths ranged from 14 to 24 repeats, comprehending 11 alleles and 37 genotypes. The most frequent allele was (CA)16 (0.43; 95% CI = 0.40-0.46), which was set as the cut-off length to define the Short allele. Variant (CA)n genotypes had no significant effect in tumoral EGFR mRNA levels, but patients with two (CA)n Long alleles showed lower chances of being negative for progesterone receptor (ORadjusted = 0.42; 95% CI = 0.19-0.91). The evaluation of R497K polymorphism indicated a frequency of 0.21 (95% CI = 0.19 - 0.24) for the variant (Lys) allele. Patients with variant R497K genotypes presented lower proportion of worse lymph node status (pN2 or pN3) when compared to the reference genotype Arg/Arg (ORadjusted = 0.32; 95% CI = 0.17-0.59), which resulted in lower tumor staging (ORadjusted = 0.34; 95% CI = 0.19-0.63), and lower estimated recurrence risk (OR = 0.50; 95% CI = 0.30-0.81). The combined presence of both EGFR polymorphisms (Lys allele of R497K and Long/Long (CA)n) resulted in lower TNM status (ORadjusted = 0.22; 95% CI = 0.07-0.75) and lower ERR (OR = 0.25; 95% CI = 0.09-0.71). When tumors were stratified according to biological classification, the favorable effects of variant EGFR polymorphisms were preserved for luminal A tumors, but not for other subtypes. CONCLUSIONS: The data suggest that the presence of the variant forms of EGFR polymorphisms may lead to better prognosis in breast cancer, especially in patients with luminal A tumors.

Evaluation of SARS-CoV-2 ORF7a Deletions from COVID-19-Positive Individuals and Its Impact on Virus Spread in Cell Culture.

The spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), causing the COVID-19 outbreak, posed a primary concern of public health worldwide. The most common changes in SARS-CoV-2 are single nucleotide substitutions, also reported insertions and deletions. This work investigates the presence of SARS-CoV-2 ORF7a deletions identified in COVID-19-positive individuals. Sequencing of SARS-CoV-2 complete genomes showed three different ORF7a size deletions (190-nt, 339-nt and 365-nt). Deletions were confirmed through Sanger sequencing. The ORF7a∆190 was detected in a group of five relatives with mild symptoms of COVID-19, and the ORF7a∆339 and ORF7a∆365 in a couple of co-workers. These deletions did not affect subgenomic RNAs (sgRNA) production downstream of ORF7a. Still, fragments associated with sgRNA of genes upstream of ORF7a showed a decrease in size when corresponding to samples with deletions. In silico analysis suggests that the deletions impair protein proper function; however, isolated viruses with partial deletion of ORF7a can replicate in culture cells similarly to wild-type viruses at 24 hpi, but with less infectious particles after 48 hpi. These findings on deleted ORF7a accessory protein gene, contribute to understanding SARS-CoV-2 phenotypes such as replication, immune evasion and evolutionary fitness as well insights into the role of SARS-CoV-2_ORF7a in the mechanism of virus-host interactions.

Population genetic analyses of the AmpFlSTR® NGM™ in Brazil.

Population data of 15 short tandem repeat loci of the AmpFlSTR® next generation multiplex (NGM)™ were obtained from a sample of 835 individuals. The loci are the ten short tandem repeats (STRs) in the SGM Plus® Kit plus the EDNAP- and ENSFI-recommended STRs D10S1248, D22S1045, D2S441, D1S1656, and D12S391. Allele frequency and other forensically relevant statistics data were generated for the NGM loci into five current country macroregions of Brazil (North, Northeast, Central West, Southeast, and South). All the analyzed loci meet Hardy-Weinberg equilibrium expectations and no linkage disequilibrium in all pairs of loci. The observed and expected heterozygosity, power of discrimination, polymorphic information content, and the other population-genetic indices were calculated. The overall power of discrimination was greater than 0.99999999999999999996 and the combined power of exclusion was greater than 0.9999998 in all Brazilian populations. Comparative analysis between populations from different Brazilian macroregions as well as between Brazil and Caucasian, African Americans, and Hispanic US populations are presented.

Frequency distribution of HCV resistance-associated variants in infected patients treated with direct-acting antivirals.

BACKGROUND: Hepatitis C virus (HCV) is a global public health problem. Second-generation direct-acting antivirals targeting non-structural regions on the viral genome are the cornerstone for treatment of chronic infection. However, resistance-associated variants (RAVs) have been reported to be associated with therapeutic failure. The aim of this study was to assess the frequency of variants, including RAVs, in the NS3, NS5A and NS5B regions at baseline in Brazilian patients with chronic hepatitis C with HCV genotypes 1a, 1b and 3a. METHODS: Serum samples from 13 patients were used to obtain viral RNA. Massively parallel sequencing was performed using genotype-specific amplicons and a panel of Ampliseq technology for all genotypes. RESULTS: Several non-synonymous substitutions were detected at baseline for 11 responders and pre-/post-treatment for two non-responders. HCV genotype 3a was found to have significantly more non-synonymous substitutions than HCV genotype 1 in the NS3 and NS5A regions. Analyses were conducted using quantitative and qualitative inter- and intrapatient comparisons. Variants that confer resistance to the treatment used by the patients were found in both responders and non-responders. CONCLUSIONS: A wide frequency distribution of RAVs was found at baseline, and this did not interfere with the achievement of a sustained response. Evaluation of the presence of RAVs requires additional study in order to determine clinical relevance.

STRait Razor Online: An enhanced user interface to facilitate interpretation of MPS data.

Since 2013, STRait Razor has enabled analysis of massively parallel sequencing (MPS) data from various marker systems such as short tandem repeats, single nucleotide polymorphisms, insertion/deletions, and mitochondrial DNA. In this paper, STRait Razor Online (SRO), available at https://www.unthsc.edu/straitrazor, is introduced as an interactive, Shiny-based user interface for primary analysis of MPS data and secondary analysis of STRait Razor haplotype pileups. This software can be accessed from any common browser via desktop, tablet, or smartphone device. SRO is available also as a standalone application and open-source R script available at https://github.com/ExpectationsManaged/STRaitRazorOnline. The local application is capable of batch processing of both fastq files and primary analysis output. Processed batches generate individual report folders and summary reports at the locus- and haplotype-level in a matter of minutes. For example, the processing of data from ∼700 samples generated with the ForenSeq Signature Preparation Kit from allsequences.txt to a final table can be performed in ∼40 min whereas the Excel-based workbooks can take 35-60 h to compile a subset of the tables generated by SRO. To facilitate analysis of single-source, reference samples, a preliminary triaging system was implemented that calls potential alleles and flags loci suspected of severe heterozygote imbalance. When compared to published, manually curated data sets, 98.72 % of software-assigned allele calls without manual interpretation were consistent with curated data sets, 0.99 % loci were presented to the user for interpretation due to heterozygote imbalance, and the remaining 0.29 % of loci were inconsistent due to the analytical thresholds used across the studies.

Evaluation of the precision ID mtDNA whole genome panel on two massively parallel sequencing systems.

Sequencing whole mitochondrial genomes by capillary electrophoresis is a costly and time/labor-intensive endeavor. Many of the previous Sanger sequencing-based approaches generated amplicons that were several kilobases in length; lengths that are likely not amenable for most forensic applications. However, with the advent of massively parallel sequencing (MPS) short-amplicon multiplexes covering the entire mitochondrial genome can be sequenced relatively easily and rapidly. Recently, the Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific by Applied Biosystems™) has been introduced. This panel is composed of 162 amplicons (in two multiplexes) that are considerably smaller in length (∼163bp) and thus are more amenable to analyzing challenged samples. This panel was evaluated on both the Ion S5™ System (Thermo Fisher Scientific) and the MiSeq™ FGx Desktop Sequencer (Illumina). A script was developed to extract phased haplotypes associated with these amplicons. Levels of read-depth were compared across sequencing pools and between sequencing technologies and haplotype concordances were assessed. Given modest thresholds on read depth, the haplotypes identified by either technology were consistent. Nuclear mitochondrial sequences (Numts) were also inferred, and the effect of different mapping strategies commonly used to filter out Numts were contrasted. Some Numts are co-amplified with this amplification kit, and while the choice of reference sequence can mitigate some of these effects, some data from the mitochondrial genome were lost in the process in this study. This study demonstrates that the Ion and MiSeq platforms provide consistent haplotype estimation of the whole mitochondrial genome, thus providing further support for the reliability and validity of the Precision ID mtDNA Whole Genome Panel.

Green Tobacco Sickness among Brazilian farm workers and genetic polymorphisms.

OBJECTIVE: Green Tobacco Sickness (GTS) is an occupational illness caused by dermal absorption of nicotine from tobacco leaves. It affects thousands of farm workers worldwide. Brazil is the second tobacco producer in the world; despite this, there are few studies on GTS among Brazilian harvesters. This study aimed to determine the prevalence of GTS among a population of tobacco workers from a producing area in northeastern Brazil and investigate whether the occurrence of the disease was influenced by factors such age, gender and smoking status. In addition, it was investigated if there was association between the onset of GTS and genetic polymorphisms in genes that encode some detoxification enzymes. A semi-structured questionnaire was used to collect demographic, behavioral and occupational data from the referred workers. Polymorphisms were tested through the Polymerase Chain Reaction technique. RESULTS: The total prevalence of GTS found was 56.9%, with a significant difference between genders (71.7% for women and 35.3% for men, p < 0.0001). No association was identified between the investigated polymorphisms and GTS. This study confirms the occurrence of GTS among tobacco harvesters in Brazil with high prevalence. The investigation suggests the need to take preventive measures to protect tobacco workers against this disease.

Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.

Neurofibromatosis 1 (NF1) is one of the most common genetic disorders and is caused by mutations in the NF1 gene. NF1 gene mutational analysis presents a considerable challenge because of its large size, existence of highly homologous pseudogenes located throughout the human genome, absence of mutational hotspots, and diversity of mutations types, including deep intronic splicing mutations. We aimed to evaluate the use of hybridization capture-based next-generation sequencing to screen coding and noncoding NF1 regions. Hybridization capture-based next-generation sequencing, with genomic DNA as starting material, was used to sequence the whole NF1 gene (exons and introns) from 11 unrelated individuals and 1 relative, who all had NF1. All of them met the NF1 clinical diagnostic criteria. We showed a mutation detection rate of 91% (10 out of 11). We identified eight recurrent and two novel mutations, which were all confirmed by Sanger methodology. In the Sanger sequencing confirmation, we also included another three relatives with NF1. Splicing alterations accounted for 50% of the mutations. One of them was caused by a deep intronic mutation (c.1260 + 1604A > G). Frameshift truncation and missense mutations corresponded to 30% and 20% of the pathogenic variants, respectively. In conclusion, we show the use of a simple and fast approach to screen, at once, the entire NF1 gene (exons and introns) for different types of pathogenic variations, including the deep intronic splicing mutations.

Genetic data on 12 STRs (F13A01, F13B, FESFPS, LPL, CSF1PO, TPOX, TH01, vWA, D16S539, D7S820, D13S317, D5S818) from four ethnic groups of São Paulo, Brazil.

Allelic frequencies for 12 short tandem repeats (STRs) (F13A01, F13B, FESFPS, LPL, CSF1PO, TPOX, TH01, vWA, D16S539, D7S820, D13S317 and D5S818) were estimated, also as forensic parameters, from a sample of 916 unrelated Brazilian subjects classified into four ethnic groups: European-derived, African-derived, Brazilian Mulattos and Asian-derived.

[Endometrial osseous metaplasia: clinical presentation and follow-up]. / Metaplasia óssea endometrial: quadro clínico e seguimento após tratamento.

PURPOSE: to describe the clinical signs and symptoms of patients with bone metaplasia and to assess the risk factors for changes in these symptoms after removal of the bone fragment. METHODS: a cross-sectional study was conducted on 16 patients with a diagnosis of bone fragments in the uterine cavity during the period comprising July 2006 to January 2009. The inclusion criterion was the detection of a bone fragment removed from the uterine cavity. The presence of bone tissue in the endometrial cavity was histologically confirmed in all patients. The data of all patients were obtained before and after removal by means of a questionnaire for the evaluation of the effect of removal on the symptoms and for the search of possible factors related to the onset of the disease. RESULTS: half the patients (8/16) had hemorrhagic symptoms and one third (6/16) were infertile. Removal of the fragments was quite effective in improving the complaints, with the disappearance of symptoms in all cases of hemorrhage and of pelvic pain. CONCLUSION: removal of bone fragments can restore the fertility of selected patients whose infertility is caused by bone metaplasia and is quite effective in leading to improvement in patients with pelvic pain and menorrhage.

Genetic data on 15 STR autosomal loci for a sample population of the Northern Region of the State of Rio de Janeiro, Brazil.

Allele frequencies data, paternity and forensic parameters for 15 autosomal short tandem repeat (STR) autosomal markers (D8S1179, D21S11, D7S820, CSF1PO, D5S818, D3S1358, TH01, D13S317, D16S539, D2S1338, TPOX, D19S433, vWA, D18S51, FGA) were determined for a sample of 494 unrelated individuals undergoing kinship analysis and molecular cytogenetic testing from the population of the city of Campos dos Goytacazes, Northern State of Rio de Janeiro, Brazil. The loci with the highest polymorphism information content were D18S51 (0.874), D2S1338 (0.853), FGA (0.852), D21S11 (0.838). The combined power of discrimination and the combined power of exclusion were 0.999999999999999 and 0.999526684, respectively. At the available common loci CSF1PO, TH01, TPOX, vWA, D16S539, D7S820 and D13S317, allele frequencies were compared with population databases from State of Alagoas, State of Amazonas, State of São Paulo (Brazilian mulattoes, descendants of Europeans, Africans or Asians), State of Mato Grosso do Sul and State of Rio de Janeiro. No significant distances were observed. The interpopulation genetic distance (Fst coefficients) to the present database, ranged 0.0022 (p=0.446) (Northern State Rio de Janeiro-State of São Paulo European-descendants) to 0.0138 (p=0.993) (Northern State Rio de Janeiro-State of São Paulo Asian-descendants). The Asian-descendants Brazilians are the least admixed. All other groups are admixed as one unique population.

Genetic analysis of the cause of endometrial osseous metaplasia.

OBJECTIVE: To analyze solitary bone fragments from the uterine cavity through DNA genotyping, thus elucidating whether they originate from metaplasia, from previous abortion, or both. METHODS: We conducted a case series study on 14 patients, of whom eight yielded bone DNA. The patients selected had histopathologic diagnoses of bone fragments inside the uterine cavity or previously removed samples available for analysis. We extracted DNA from blood and bone fragments. To identify the bone tissue origin, these materials were genotyped using polymerase chain reactions for DNA loci. Six mini short tandem repeat loci frequently used for human tissue identification were analyzed using automated sequencing. RESULTS: Among these eight patients, blood and tissue samples from the same individual produced exactly the same pair of alleles for all six loci. This indicated that the DNA profile was completely the same for the bone samples and the mother's blood (95% confidence interval 63-100%), thus confirming that the DNA had the same origin and that these were cases of metaplasia. CONCLUSION: In all of the eight cases, bone formation was caused by osseous metaplasia, because the DNA in the bone fragment and in the patient's blood was identical. Although all of the women had histories of previous abortion, no difference in DNA was detected in the bone tissue in any of the cases, as would be expected if abortion had occurred. This result was completely unexpected, differing greatly from what the literature suggests. LEVEL OF EVIDENCE: III.

Combined analysis of genetic and environmental factors on essential hypertension in a brazilian rural population in the Amazon region.

OBJECTIVE: In the present study, we evaluated the contribution of six genetic polymorphisms of the Renin-Angiotensis-Aldosterone system (RAAS) and clinical risk factors in the development of essential hypertension in a Brazilian rural population in the Amazon region. METHODS: Eighty-two hypertensive patients and seventy-eight normotensive individuals were evaluated. Genotyping for renin (REN G1051A), angiotensinogen (AGT) M235T, insertion/deletion of angiotensin-converting enzyme (ACE I/D), angiotensin II type 1 receptor (AGTR1) A1166C and aldosterone synthase (CYP11B2) C344T polymorphisms were performed using polymerase chain reaction, with further restriction analysis when required. The influence of genetic polymorphisms and clinical risk factors on blood pressure variation was assessed by stepwise linear regression. RESULTS: We report the co-occurrence of clinical risk factors and angiotensin-converting enzyme (ACE) gene polymorphism in a Brazilian rural population in the Amazon region. Our results indicate that increase of systolic blood pressure (SBP) is favored by ACE I/D- D allele and advanced age, while alcohol consumption and aging are associated with high diastolic blood pressure (DBP). CONCLUSION: These findings suggest that in the Santa Isabel do Rio Negro population, the residents that carry ACE-D allele or have an alcohol consumption habit present higher values of SBP and DBP, respectively, with the passing of years.

Metaplasia óssea endometrial: quadro clínico e seguimento após tratamento / Endometrial osseous metaplasia: clinical presentation and follow-up

OBJETIVO: apresentar o quadro clínico das pacientes com metaplasia óssea e avaliar os fatores de risco, as mudanças dos sinais e sintomas após a retirada do fragmento ósseo. MÉTODOS: foi realizado um estudo transversal com 16 pacientes diagnosticadas com fragmentos ósseos na cavidade uterina no período de julho de 2006 a janeiro de 2009. O critério de inclusão foi o achado de fragmento ósseo retirado da cavidade uterina. Todas as pacientes tiveram confirmação histológica de presença de tecido ósseo na cavidade endometrial. Obtivemos os dados de todas as pacientes antes e depois da retirada por meio de um questionário para avaliar o efeito da retirada sobre a sintomatologia das pacientes, além da pesquisa de possíveis fatores relacionados ao aparecimento da doença. RESULTADOS: metade das pacientes (8/16) tinha sintomas hemorrágicos e um terço (6/16) apresentava infertilidade. A retirada dos fragmentos foi efetiva na melhora das queixas, havendo desaparecimento dos sintomas em todos os casos de menorragia e dor pélvica. CONCLUSÃO: A retirada do fragmento ósseo pode restaurar a fertilidade em pacientes selecionadas e que tenham como causa a metaplasia óssea, além de ser bastante efetiva em proporcionar melhora nos casos que cursam com dor pélvica e menorragia.

PURPOSE: to describe the clinical signs and symptoms of patients with bone metaplasia and to assess the risk factors for changes in these symptoms after removal of the bone fragment. METHODS: a cross-sectional study was conducted on 16 patients with a diagnosis of bone fragments in the uterine cavity during the period comprising July 2006 to January 2009. The inclusion criterion was the detection of a bone fragment removed from the uterine cavity. The presence of bone tissue in the endometrial cavity was histologically confirmed in all patients. The data of all patients were obtained before and after removal by means of a questionnaire for the evaluation of the effect of removal on the symptoms and for the search of possible factors related to the onset of the disease. RESULTS: half the patients (8/16) had hemorrhagic symptoms and one third (6/16) were infertile. Removal of the fragments was quite effective in improving the complaints, with the disappearance of symptoms in all cases of hemorrhage and of pelvic pain. CONCLUSION: removal of bone fragments can restore the fertility of selected patients whose infertility is caused by bone metaplasia and is quite effective in leading to improvement in patients with pelvic pain and menorrhage.

Analysis of the DMPK gene CTG repeat in healthy Brazilians

Myotonic dystrophy (DM) is a neuromuscular disorder caused by the expansion of the cytosine-thymine-guanine (CTG) repeat of the myotonic dystrophy protein kinase gene (DMPK). This repeat is highly polymorphic in healthy individuals [(CTG)5-37], and it has been proposed that expanded CTG alleles originated from larger sized normal alleles [(CTG)19-37]. According to this hypothesis, a positive correlation should be expected between the frequency of these large-sized normal alleles and the prevalence of the disorder in a population. We determined the distribution of CTG alleles of the DMPK gene in 156 healthy Brazilians from Rio de Janeiro city. Our analyses of 312 chromosomes detected 20 different alleles ranging in size from 5 to 27 CTG repeats, with 24 alleles having more than 18 repeats (7.69 percent). This frequency of (CTG)3(19) alleles observed in our population suggests that the prevalence of DM in Rio de Janeiro should not be different from the prevalence in European populations.

Análise combinada de fatores genéticos e ambientais na hipertensão essencial em um município da região Amazônica / Combined analysis of genetic and environmental factors on essential hypertension in a brazilian rural population in the Amazon region

OBJETIVO: Este estudo avaliou a contribuição de seis polimorfismos genéticos presentes em genes do sistema renina-angiotensina-aldosterona (SRAA) e fatores de risco clínicos para o desenvolvimento da hipertensão arterial essencial em um município da região Amazônica. MÉTODOS: Oitenta e dois indivíduos hipertensos e setenta e oito indivíduos normotensos foram genotipados quanto à presença de polimorfismos REN-G1051A (renina), AGT-M235T (angiotensinogênio), ECA-Alu I/D (enzima conversora de angiotensina I), AGTR1-A1166C (receptor tipo 1 da angiotensina II) e CYP11B2-C344T (aldosterona sintetase) pela técnica de reação em cadeia da polimerase (PCR), com análise de restrição quando necessário. A influência de polimorfismos genéticos e fatores de risco clínicos na variação da pressão arterial foi avaliada por meio de regressão linear stepwise. RESULTADOS: Relatamos a co-ocorrência de fatores de risco clínicos e polimorfismo do gene da enzima conversora de angiotensina (ECA) na população de um município da região amazônica. Nossos resultados mostram que a elevação da pressão arterial sistólica é favorecida pelo alelo D do polimorfismo de inserção/deleção do gene da ECA e pelo aumento da idade, enquanto consumo de bebida alcoólica e envelhecimento estão associados ao aumento da pressão arterial diastólica (PAD). CONCLUSÃO: Esses achados indicam que os moradores de Santa Isabel do Rio Negro que possuem o alelo D da ECA ou têm o hábito de beber apresentam valores mais elevados de PAS e PAD, respectivamente, com o passar dos anos.

OBJECTIVE: In the present study, we evaluated the contribution of six genetic polymorphisms of the Renin-Angiotensis-Aldosterone system (RAAS) and clinical risk factors in the development of essential hypertension in a Brazilian rural population in the Amazon region. METHODS: Eighty-two hypertensive patients and seventy-eight normotensive individuals were evaluated. Genotyping for renin (REN G1051A), angiotensinogen (AGT) M235T, insertion/deletion of angiotensin-converting enzyme (ACE I/D), angiotensin II type 1 receptor (AGTR1) A1166C and aldosterone synthase (CYP11B2) C344T polymorphisms were performed using polymerase chain reaction, with further restriction analysis when required. The influence of genetic polymorphisms and clinical risk factors on blood pressure variation was assessed by stepwise linear regression. RESULTS: We report the co-occurrence of clinical risk factors and angiotensin-converting enzyme (ACE) gene polymorphism in a Brazilian rural population in the Amazon region. Our results indicate that increase of systolic blood pressure (SBP) is favored by ACE I/D- D allele and advanced age, while alcohol consumption and aging are associated with high diastolic blood pressure (DBP). CONCLUSION: These findings suggest that in the Santa Isabel do Rio Negro population, the residents that carry ACE-D allele or have an alcohol consumption habit present higher values of SBP and DBP, respectively, with the passing of years.

Fixed bin frequency distribution for the VNTR Loci D2S44, D4S139, D5S110, and D8S358 in a population sample from Minas Gerais, Brazil

Fixed bin frequencies for the VNTR loci D2S44, D4S139, D5S110, and D8S358 were determined in a Minas Gerais population sample. The data were generated by RFLP analysis of HaeIII-digested genomic DNA and chemiluminescent detection. The four VNTR loci have met Hardy-Weinberg equilibrium, and there was no association of alleles among VNTR loci. The frequency data can be used in forensic analyses and paternity tests to estimate the frequency of a DNA profile in the general Brazilian population