Análise das mutações C282Y e H63D no gene da proteína HFE em pacientes com hiperferritinemia
نویسندگان
چکیده
منابع مشابه
Prevalence of C282Y and H63D mutations in the HFE gene of Brazilian individuals with clinical suspicion of hereditary hemochromatosis Prevalência das mutações C282Y e H63D no gene HFE em indivíduos brasileiros com suspeita clínica de hemocromatose hereditária
Alessandro C. S. Ferreira Vanessa C. Oliveira Fabíola A. Caxito Karina B. Gomes Amanda M. Castro Victor C. Pardini Classical hereditary hemochromatosis is a recessive autosomal disease related to a systemic iron overload that is frequently related to C282Y and H63D mutations in the HFE gene. In Brazil, reports on HFE gene mutation frequencies are rare, mainly in regards to a representative samp...
متن کاملPrevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.
The frequencies of C282Y and H63D mutations of the HFE gene vary between different populations. A previous study showed an unexpectedly high H63D frequency in Chuetas (a population of Jewish descent). The present study addressed the question of the distribution of these mutations in Jewish populations from different origins and studied the possible causes of the high H63D frequency in Chuetas. ...
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متن کاملFrequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina.
Genetic epidemiology studies of hereditary hemochromatosis (HHC) have shown a high prevalence of the C282Y mutation in individuals of the North Western European origin, whereas lower prevalence of HFE gene mutations was detected in the populations from southern European countries. However, no HFE mutation prevalence data have been provided for the population of Bosnia-Herzegovina so far. Theref...
متن کاملSolid-phase amplification for detection of C282y and H63D hemochromatosis (HFE) gene mutations.
BACKGROUND There is a need for simple, rapid, and inexpensive methods for the detection of single-nucleotide polymorphisms. Our aim was to develop a single-tube ELISA-like PCR assay and evaluate it by detecting the common C282Y and H63D mutations found in the hemochromatosis gene (HFE) by use of clinical samples. METHODS The method, termed solid-phase amplification (SPA), involves dual liquid...
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ژورنال
عنوان ژورنال: Revista Brasileira de Hematologia e Hemoterapia
سال: 2008
ISSN: 1516-8484
DOI: 10.1590/s1516-84842008000300018