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Document Type |
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Thesis |
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Document Title |
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HFE Hemochromatosis gene frequency in the population of Jeddah city – Saudi Arabia تردد جين الصباغ الدموي (HFE) بين سكان مدينة جده- المملكة العربية السعودية |
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Subject |
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Faculty of Science |
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Document Language |
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Arabic |
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Abstract |
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Hereditary hemochromatosis (HH), a common autosomal recessive disease, is characterized by increased iron absorption leading to progressive iron accumulation in internal organs which ultimately leads to organ failure and death. It is the most common genetic disorder occurring in individuals of northern European descent. The defective gene in the majority of cases, HFE, was identified in 1996. The objective of this study was to determine the frequencies of the HFE gene mutations (C282Y and H63D) in DNA samples of 500 healthy Saudi individuals. We used the polymerase chain reaction (PCR) to amplify exon 2 and 4 of the HFE gene and then the restriction fragment length polymorphism (RFLP) method to detect the mutations. The results revealed that the mutations in the normal Saudi population of Jeddah city have frequencies of 0.0%, 14% for C282Y and H63D respectively. This suggests that in Saudi, HFE hemochromatosis is attributed solely to the H63D mutation. Given that in a Caucasian population hereditary hemochromatosis is mostly related to the C282Y mutation, it is possible that the findings for the Saudi population are due to geographical differences between the populations, since the C282Y mutation is also absent in the population of Africa, Asia and South America while the wide spread H63D frequency in Saudi is equivalent to the frequency in countries like Ireland, New Zealand, France, USA, Italy and Mexico. It is thus recommended to carry out more elaborate studies on the genotype/phenotype of hemochromatosis in Saudi Arabia and other countries in the Middle East. |
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Supervisor |
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Prof. Jalaludine A. Jalal |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1431 AH
2010 AD |
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Added Date |
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Saturday, December 4, 2010 |
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Researchers
| هند علي الخطابي | Al-khattabi, Hind Ali | Researcher | Master | |
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