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Clinical characteristics and analysis of HFE gene variants (C282Y and H63D) in Jordanian Arab patients with age-related macular degeneration
Joint Authors
al-Khatib, Asim
al-Khatib, Shadi
al-Betieha, Ahmad
al-Rashaideh, Tasnim
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 14, Issue 2 (30 Apr. 2013), pp.177-181, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2013-04-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
Age-related macular degeneration (AMD) is a complex genetic disorder with multiple etiologies.
Multiple genes as well as environmental effects are thought to play a role in causing AMD.
Recent evidence pointed that elevated iron overload, resulting from hereditary defects of iron homeostasis, is associated with retinal degeneration and consequently plays a role in the pathogenesis of AMD.
Hemochromatosis is a genetic disorder in which excess iron is absorbed from the diet and deposited in different tissues, primarily caused by mutations in HFE gene.
Two major mutations in HFE are responsible for most hemochromatosis cases, namely, C282Y and H63D.
In this work we gathered information relating to 37 AMD patients from Jordan, and investigated the potential association between hemochromatosis, or more specifically, carrier state for a mutation in HFE gene (which may moderately increase dietary iron absorption) and AMD, given the effect of elevated iron levels on AMD occurrence.
Questionnaires and blood samples were collected from patients visiting the eye care clinic in the King Abdullah hospital in Jordan.
DNA was extracted from patient samples and mutations in HFE were genotyped (using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and DNA sequencing) and compared to 106 control samples.
American Psychological Association (APA)
al-Khatib, Asim& al-Khatib, Shadi& al-Betieha, Ahmad& al-Rashaideh, Tasnim. 2013. Clinical characteristics and analysis of HFE gene variants (C282Y and H63D) in Jordanian Arab patients with age-related macular degeneration. The Egyptian Journal of Medical Human Genetics،Vol. 14, no. 2, pp.177-181.
https://search.emarefa.net/detail/BIM-359465
Modern Language Association (MLA)
al-Khatib, Asim…[et al.]. Clinical characteristics and analysis of HFE gene variants (C282Y and H63D) in Jordanian Arab patients with age-related macular degeneration. The Egyptian Journal of Medical Human Genetics Vol. 14, no. 2 (Apr. 2013), pp.177-181.
https://search.emarefa.net/detail/BIM-359465
American Medical Association (AMA)
al-Khatib, Asim& al-Khatib, Shadi& al-Betieha, Ahmad& al-Rashaideh, Tasnim. Clinical characteristics and analysis of HFE gene variants (C282Y and H63D) in Jordanian Arab patients with age-related macular degeneration. The Egyptian Journal of Medical Human Genetics. 2013. Vol. 14, no. 2, pp.177-181.
https://search.emarefa.net/detail/BIM-359465
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 180-181
Record ID
BIM-359465