Studies at the Hemochromatosis ( HFE ) Locus : Gene conversions , Haplotypes , and an Association Analysis
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چکیده
................................................................................................... 3 Acknowledgements ................................................................................... 5 Chapter
منابع مشابه
Sequence variation and haplotype structure at the human HFE locus.
The HFE locus encodes an HLA class-I-type protein important in iron regulation and segregates replacement mutations that give rise to the most common form of genetic hemochromatosis. The high frequency of one disease-associated mutation, C282Y, and the nature of this disease have led some to suggest a selective advantage for this mutation. To investigate the context in which this mutation arose...
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BACKGROUND Chronic hepatitis C virus (HCV) infection is frequently associated with elevated serum iron markers. Polymorphisms in the hemochromatosis (HFE) genes are responsible for iron accumulation in most cases of hemochromatosis, and may play a role in HCV infection. OBJECTIVES We aimed to assess the prevalence of HFE gene polymorphisms in a group of Iranian HCV-infected patients, and to e...
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A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H6...
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A pedigree was studied in which five individuals with fl-thalassemia minor were found to have nontransfusional hemochromatosis. Three were children under the age of 10 and two were young male adults. ages 28 and 33. A 5-yr-old child without evidence of thalassemia also had hemochromatosis. Since hemochromatosis is transmitted as an HIA-linked autosomal recessive disorder. HLA haplotypes serve a...
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Iron has been suggested to be a risk factor for colorectal neoplasia. Some individuals who are heterozygous for mutations in the hemochromatosis gene (HFE) have higher than average serologic measures of iron. We therefore investigated whether heterozygosity for HFE mutations was related to risk of advanced distal adenoma and whether the relationship was affected by dietary iron intake. In the P...
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