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1.
Artigo em Inglês | LILACS | ID: lil-724684

RESUMO

Epidemiological investigations have indicated that Helicobacter pylori induces inflammation in the gastric mucosa regulated by several interleukins. The genes IL1B and IL8 are suggested as key factors in determining the risk of gastritis. The aim of this paper was to evaluate the association of gene polymorphism of interleukin-1 and interleukin-8 with chronic gastrits in H. pylori infected patients. A total of 60 patients underwent endoscopic procedure. Biopsy samples were collected for urease test, histopathological and molecular exams. The DNA of theses samples was extracted for detection of H. pylori and analysis of the genes mentioned above. Patients with gastritis had a higher frequency of H. pylori-positive samples.


Assuntos
Animais , Gastrite/patologia , Helicobacter , Interleucina-1 , Polimorfismo Genético/genética
2.
J. venom. anim. toxins incl. trop. dis ; 20: 1-5, 04/02/2014. tab
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-1484573

RESUMO

Epidemiological investigations have indicated that Helicobacter pylori induces inflammation in the gastric mucosa regulated by several interleukins. The genes IL1B and IL8 are suggested as key factors in determining the risk of gastritis. The aim of this paper was to evaluate the association of gene polymorphism of interleukin-1 and interleukin-8 with chronic gastrits in H. pylori infected patients. A total of 60 patients underwent endoscopic procedure. Biopsy samples were collected for urease test, histopathological and molecular exams. The DNA of theses samples was extracted for detection of H. pylori and analysis of the genes mentioned above. Patients with gastritis had a higher frequency of H. pylori-positive samples.


Assuntos
Animais , Gastrite/patologia , Helicobacter , Interleucina-1 , Polimorfismo Genético/genética
3.
Am J Med Genet A ; 146A(20): 2663-7, 2008 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-18798309

RESUMO

Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature.


Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 1/genética , Trissomia/genética , Anormalidades Múltiplas/genética , Criança , Pré-Escolar , Bandeamento Cromossômico , Coloração Cromossômica , Cromossomos Artificiais Bacterianos , Análise Citogenética , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/genética , Masculino , Síndrome
4.
J Alzheimers Dis ; 6(6): 591-4; discussion 673-81, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15665399

RESUMO

Alzheimer disease (AD) is the most common neurodegenerative disorder in the elderly and is also considered a progeroid genetic syndrome. The etiology of AD is complex and the mechanisms underlying its pathophysiology remains to be clarified. Werner syndrome (WS) is a rare autosomal recessive disorder characterized as a segmental progeroid syndrome. The gene (WRN) was recently identified. Its product acts as a DNA helicase and exonuclease. This study investigates the association of AD with the WRN 1367 polymorphisms in samples of 67 DA patients, 56 elderly healthy and 66 young healthy controls. DNA was isolated from blood cells, amplified by PCR and digested with PmaCI. We observed that the genotype distributions of WRN 1367 variants were within Hardy-Weinberg equilibrium in all subject samples. Furthermore, chi-square test comparison for genotype distributions and allele frequencies did not reveal any significant difference among the three groups of subjects (P>0.05). These results support the idea that these variants are not involved as a risk factor for developing AD.


Assuntos
Doença de Alzheimer/genética , DNA Helicases/genética , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/epidemiologia , Doença de Alzheimer/fisiopatologia , Distribuição de Qui-Quadrado , Aberrações Cromossômicas , Desoxirribonucleases de Sítio Específico do Tipo II , Eletroforese em Gel de Ágar , Exodesoxirribonucleases , Frequência do Gene , Genes Recessivos/genética , Variação Genética , Genótipo , Humanos , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase/métodos , Polimorfismo Genético , RecQ Helicases , Fatores de Risco , Helicase da Síndrome de Werner
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