Association study of the Ile349val polymorphism of the gene ADH1C and alcohol dependence / Estudo sobre a associação entre o polimorfismo Ile349Val do gene ADH1C e a dependência alcoólica

OBJECTIVE: The aim of this study was to investigate the polymorphism Ile349Val of the enzyme alcohol dehydrogenase ADH1C gene among individuals with alcohol dependence syndrome (ADS) attending Alcoholics Anonymous (AA) meetings. METHODS: A total of 120 subjects residing in Rio de Janeiro city participated in this study. Subjects were divided into two groups: a group consisting of 54 individuals from the ADS group and 66 individuals that declared not having any alcohol dependence (control group). DNA was extracted from mouth epithelial cells by phenol-chloroform method and further submitted to amplification by polymerase chain reaction (PCR). RESULTS: Our results did not show differences between the genotypes of control individuals and ADS subjects. Nevertheless, we found increased rates of alcoholism in families of ADS subjects as compared to controls. CONCLUSIONS: Our results did not show any genotype difference on the ADH1C gene when control and AA genotypes are compared.

OBJETIVO: Investigar o polimorfismo Ile349Val do gene ADH1C da enzima álcool desidrogenase e a dependência de álcool em indivíduos frequentadores dos Alcoólicos Anônimos (AA). MÉTODOS: Um total de 120 pessoas residentes na cidade do Rio de Janeiro foi dividido em dois grupos: o primeiro foi formado por 54 pessoas com síndrome de dependência do álcool (SDA) pertencentes ao grupo dos AA. O segundo, com 66 pessoas, foi formado por indivíduos que descreveram não serem dependentes de álcool (grupo controle). O DNA foi extraído de células da mucosa oral utilizando-se a técnica do fenol-clorofórmio e posteriormente amplificado pela reação em cadeia pela polimerase (PCR). RESULTADOS: Nossos resultados não mostraram diferenças entre o genótipo dos indivíduos controle e aqueles do grupo SDA. A análise, entretanto, demonstrou uma significativa relação entre o grupo SDA e o histórico familiar de alcoolismo. CONCLUSÕES: Em nossos resultados não encontramos diferenças quanto ao genótipo ADH1C em indivíduos com SDA e controles.

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.

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.

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.

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

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