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Clinical characteristics and analysis of HFE gene variants (C282Y and H63D) in Jordanian Arab patients with age-related macular degeneration
المؤلفون المشاركون
al-Khatib, Asim
al-Khatib, Shadi
al-Betieha, Ahmad
al-Rashaideh, Tasnim
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 14، العدد 2 (30 إبريل/نيسان 2013)، ص ص. 177-181، 5ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2013-04-30
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الموضوعات
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 180-181
رقم السجل
BIM-359465
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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