ß-globin gene cluster haplotypes and clinical severity in sickle cell anemia patients in southern Brazil

Hematopoietic stem cell transplantation (HSCT) has emerged as a curative strategy for sickle cell anemia (SCA); it is necessary to find markers of SCA clinical severity to spare those SCA patients whose clinical course is mild from the morbidity and mortality associated with HSCT. Haplotypes have been correlated with the severity of clinical manifestations in SCA patients, and fetal hemoglobin (HbF) and socioeconomic status (SeS) have also been described as negative factors. We studied these factors and their impact on clinical manifestations in a population of Southern Brazilian patients attending the Center for Sickle Cell Anemia at Hospital de Clínicas de Porto Alegre/RS, Brazil. Clinical severity was defined as two or more veno-occlusive episodes per year. The βS haplotypes were determined by PCR in 75 SCA patients. Among the 150 βS chromosomes analyzed, 99 (66%) were identified as Bantu (Ban), 41 (27%) as Benin (Ben), and 10 (7%) as other haplotypes. Most patients in our sample (62.7%) belonged to lower SeS groups, precluding meaningful statistical analysis of SeS impact on clinical severity. There was no correlation between haplotypes or HbF level and SCA clinical severity. Gene polymorphisms and environmental issues have to be taken into consideration

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Caracterização molecular de genótipos de trigo através de marcadores do tipo RAPD

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Effect of nonsurgical periodontal therapy on serum and gingival crevicular fluid cytokine levels during pregnancy and postpartum

Background and Objective: A low-grade systemic inflammatory status originating from periodontal infection has been proposed to explain the association between periodontal disease and systemic conditions, including adverse obstetric outcomes. The aim of this study was to evaluate the effect of periodontal therapy during pregnancy on the gingival crevicular fluid and serum levels of six cytokines associated with periodontal disease and preterm birth. Material and Methods: A subsample of 60 women (18–35 years of age) up to 20 gestational weeks, previously enrolled in a larger randomized clinical trial, was recruited for the present study. Participants were randomly allocated to receive either comprehensive nonsurgical periodontal therapy before 24 gestational weeks (n = 30, test group) or only one appointment for supragingival calculus removal (n = 30, control group). Clinical data, and samples of blood and gingival crevicular fluid, were collected at baseline, at 26–28 gestational weeks and 30 d after delivery. The levels of interleukin (IL)-1b, IL-6, IL-8, IL-10, IL-12p70 and tumor necrosis factor-a were analyzed by flow cytometry. Results: After treatment, a major reduction in periodontal inflammation was observed in the test group, with bleeding on probing decreasing from 49.62% of sites to 11.66% of sites (p < 0.001). Periodontal therapy significantly reduced the levels of IL-1b and IL-8 in gingival crevicular fluid (p < 0.001). However, no significant effect of therapy was observed on serum cytokine levels. After delivery, the levels of IL-1b in the gingival crevicular fluid of the test group were significantly lower than were those in the control group (p < 0.001), but there were no significant differences between test and control groups regarding serum cytokine levels. Conclusion: Although periodontal therapy during pregnancy successfully reduced periodontal inflammation and gingival crevicular fluid cytokine levels, it did not have a significant impact on serum biomarkers

Caracterização de germoplasma de trigo por meio dos caracteres adaptativos ciclo e estatura

A caracterização de variabilidade genética é essencial para qualquer programa de melhoramento. O conhecimento dos genótipos permite que o melhorista planeje seus cruzamentos objetivando a ampliação da variância genética. O objetivo deste trabalho foi caracterizar e agrupar o germoplasma de trigo disponível para o melhorista do Sul do Brasil através dos caracteres adaptativos ciclo e estatura. Foram avaliados 53 genótipos e evidenciada uma redução significativa dos dois caracteres analisados no decorrer das últimas décadas. O agrupamento dos genótipos revelou a formação de cinco grupos principais, constituídos, basicamente, de cultivares da mesma época de recomendação para cultivo.Identification of genetic variability is crucial in any breeding program. The knowledge of genotypes helps the breeder in planning crosses aiming to increase genetic variance. The objective of this study was to identify and cluster useful wheat germplasm through the adaptive characters heading date and plant height. Fifty-three wheat genotypes which revealed a significant decrease of both characters in the last years were evaluated. The dendrogram clustered five groups composed mainly of cultivars of the same era of release

Caracterização de germoplasma de trigo por meio dos caracteres adaptativos ciclo e estatura

A caracterização de variabilidade genética é essencial para qualquer programa de melhoramento. O conhecimento dos genótipos permite que o melhorista planeje seus cruzamentos objetivando a ampliação da variância genética. O objetivo deste trabalho foi caracterizar e agrupar o germoplasma de trigo disponível para o melhorista do Sul do Brasil através dos caracteres adaptativos ciclo e estatura. Foram avaliados 53 genótipos e evidenciada uma redução significativa dos dois caracteres analisados no decorrer das últimas décadas. O agrupamento dos genótipos revelou a formação de cinco grupos principais, constituídos, basicamente, de cultivares da mesma época de recomendação para cultivo.Identification of genetic variability is crucial in any breeding program. The knowledge of genotypes helps the breeder in planning crosses aiming to increase genetic variance. The objective of this study was to identify and cluster useful wheat germplasm through the adaptive characters heading date and plant height. Fifty-three wheat genotypes which revealed a significant decrease of both characters in the last years were evaluated. The dendrogram clustered five groups composed mainly of cultivars of the same era of release

Caracterização de germoplasma de trigo através de marcadores moleculares e caracteres fenotípicos

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Caracterização de germoplasma de trigo através de marcadores moleculares e caracteres fenotípicos

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