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首页> 外文期刊>Genetic testing and molecular biomarkers >Hemojuvelin and Hepcidin Genes Sequencing in Brazilian Patients with Primary Iron Overload
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Hemojuvelin and Hepcidin Genes Sequencing in Brazilian Patients with Primary Iron Overload

机译：Hemojuvelin和Hepcidin基因测序巴西主要患者铁过载

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Background: Most hereditary hemochromatosis (HH) patients are homozygous for the p. C282Y mutation in the HFE gene. Some studies reported that HH phenotypic expression could be modulated by genetic factors such as HJV and HAMP gene mutations. Aims: The aims of this study were to identify HJV and HAMP mutations and to analyze their impact on HH phenotype in non-p. C282Y homozygous individuals. Methods: Twenty-four Brazilian patients with primary iron overload and non-p. C282Y homozygous genotype (transferrin saturation >50% in women and >60% in men and absence of secondary causes) were selected. Subsequent bidirectional sequencing of the HJV and HAMP exons was performed. Results: Sequencing revealed a substitution in heterozygosis, c. 929C>G, which corresponds to p.A310G polymorphism in HJV exon 4 (rs7540883). In the same gene, in another individual, an IVS1-36C>G intronic variant was detected in heterozygosis. In the HAMP gene, an IVS3 + 42G>A intronic variant was identified. There were six (25.0%) patients carrying a heterozygous genotype for the HFE p. C282Y and nine (37.5%) patients carrying a heterozygous genotype for the HFE p. H63D. Conclusion: HJV p.A310G polymorphism and two intronic variants were found, but none of these alterations were associated with digenic inheritance with the HFE gene. Our data indicate that HJV and HAMP functional mutations are not frequent in these patients.
机译：背景:大多数遗传性血色素沉着症(HH)患者p . C282Y突变纯合子在HFE基因。表型表达可以调制遗传因素如HJV和HAMP贷款基因突变。识别HJV HAMP贷款突变和分析他们在non-p对HH表型的影响。纯合子个体。巴西主要铁过载和患者non-p。饱和> 50%,在男性和女性和> 60%没有二次原因)被选中。随后HJV双向测序和HAMP贷款外显子。显示一个替换在杂合现象,c。929 c > G,这对应于p.A310G多态性在HJV外显子4 (rs7540883)。另一个个体,IVS1-36C > G intronic变体中检测出杂合现象。HAMP基因的帮助下,一个IVS3 + 42 g > intronic变体识别。拿着一个杂合的基因型的HFE p。C282Y和9个(37.5%)病人携带杂合的基因型的HFE H63D页。结论:HJV p.A310G多态性和两个intronic变种被发现,但这些改变与矿床有关继承与HFE基因。HJV和HAMP贷款功能变异频繁的在这些患者。

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