Navegando por Palavras-chave "genetic markers"

Agora exibindo 1 - 2 de 2
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2
    (Sociedade Brasileira de Cardiologia - SBC, 2009-04-01) Belangero, Sintia Iole [UNIFESP]; Bellucco, Fernanda Teixeira da Silva [UNIFESP]; Kulikowski, Leslie Domenici [UNIFESP]; Christofolini, Denise Maria [UNIFESP]; Cernach, Mirlene Cecilia Soares Pinho [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    BACKGROUND: The 22q11.2 deletion syndrome is the most frequent human microdeletion syndrome. The phenotype is highly variable, being characterized by conotruncal heart defect, facial dysmorphisms, velopharyngeal insufficiency, learning difficulties and mental retardation. OBJECTIVE: The objective of this study was to investigate the frequency of deletion 22q11.2 in a Brazilian sample of individuals with isolated conotruncal heart defect and 22q11.2 deletion syndrome phenotype. METHODS: Twenty-nine patients were studied by classical cytogenetics, by fluorescence in situ hybridization (FISH), and by molecular techniques. RESULTS: Cytogenetic analysis by G-banding revealed a normal karyotype in all patients except one who presented a 47,XX,+idic(22)(q11.2) karyotype. Using molecular techniques, a deletion was observed in 25% of the patients, all exhibiting a 22q11.2 deletion syndrome phenotype. In none of the cases the deletion was inherited from the parents. The frequency of 22q11.2 deletion was higher in patients with the clinical spectrum of the 22q11.2 deletion syndrome than in patients with isolated conotruncal heart defect. CONCLUSION: Investigating the presence of the deletion and its correlation with the patients' clinical data can help the patients and their families to have a better genetic counseling and more adequate clinical follow-up.
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Prevalência da predisposição genética para doença celíaca nos doadores de sangue em São Paulo-Brasil
    (Universidade Federal de São Paulo (UNIFESP), 2014-05-30) Yoshida, Janaina Guilhem Muniz [UNIFESP]; Fagundes Neto, Ulysses Fagundes Neto [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Background: Celiac disease (CD) is an immune-mediated enteropathy caused by a permanent intolerance induced by gluten, which is expressed by T-cell mediated enteropathy, and has a high prevalence in the general population. There is evidence of strong genetic predisposition to CD. Objective: To determine the prevalence of genetic markers HLA-DQ2 and HLA-DQ8 in blood donors from São Paulo and to measure human recombinant tissue transglutaminase antibody class IgA in those blood donors with HLA-DQ2 and HLA-DQ8 positive. Methods: A total of 404 blood donors from São Paulo city and Jundiaí were included in the study and signed the informed consent form. Informed regarding about diarrhea, constipation and abdominal pain in the last 3 months were also colleted. The determination of the HLADQ2 and HLADQ8 alleles was performed by PCR in all participants and human recombinant tissue transglutaminase antibody class IgA was measured only in blood donors who had DQ2 and/or DQ8 positive. Results: The HLADQ2 and/or HLADQ8 were positive in 49% (198/404) of subjects, and 11 (5%) of them were positive to human tissue transglutaminase test. Conclusion: We conclude that the prevalence of genetic markers for CD, HLA-DQ2 and HLA-DQ8, in blood donors from São Paulo, was high and similar to that found in Europe. These findings show that the prevalence of CD should not be rare in our country, but underdiagnosed.