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dc.contributor.advisor Zada, Suher
dc.contributor.author Rabie, Eman AbdelAlim
dc.date.accessioned 2016-05-22T09:30:37Z
dc.date.created Spring 2016 en_US
dc.date.issued 2016-05-22
dc.identifier.uri http://dar.aucegypt.edu/handle/10526/4739
dc.description.abstract The human body employs different DNA repair pathways to protect itself against cancers induced by DNA damage. The nucleotide excision repair (NER) pathway comprises different synchronously working DNA repair proteins; two of which are XPA and XPC. Mutations of any of the genes encoding the NER proteins cause an autosomal recessive genetic disorder called Xeroderma Pigmentosum (XP). XP patients present with characteristic dry atrophic freckle-like pigmentation of the skin, photosensitivity and photophobia. Some patients develop neurodegenerative symptoms early in life, including mental retardation. Patients have a 10,000-fold increased risk for UV-induced skin cancers, moreover, a higher risk for ocular, oral and internal cancers. Death usually results from skin cancers, neurological deterioration, and internal cancers. XP is a rare disorder; it affects one per million individuals, however, higher incidences were observed in some geographical areas such as Mayotte islands (1:5000), Japan (1:22,000) and North Africa (1:10,000 in Tunisia and 1:80,504 in Morocco) due to geographical isolation, and high rate of intra-familial marriage. In North Africa, and in Egypt, XPC followed by XPA gene mutations are the most common. In Egypt, XP accounts for 15.9% of genetic skin disorders. Recently, XPA gene mutations were detected in four Egyptian XP patients only. In the current study, fourteen unrelated families having seventeen XP Egyptian patients were studied via direct sequencing for detection of both XPA and XPC gene mutations. This is the first study to identify mutations in both XPA and XPC genes in Egyptian XP patients with variable clinical features. Ten mutations were identified; four of which were recurrent mutations, three were novel mutations, and three mutations were reported previously in non-Egyptian XP patients. Carrier and prenatal screening were provided for the studied families. Spectra of XPA and XPC mutations in the Egyptian population were outlined with emphasis on clinical phenotypes. In conclusion, identification of pathogenic mutations provided a valuable tool for detection of recurring and private XP mutations in the Egyptian population. Mutation detection augments genetic counseling via carrier, prenatal and premarital screening, and provides a cornerstone for development of diagnostic strategies and future gene therapies. en_US
dc.description.sponsorship Research Grant from AUC and support Grant from National Research Center, NRC en_US
dc.format.extent 133 p. en_US
dc.format.medium theses en_US
dc.language.iso en en_US
dc.rights Author retains all rights with regard to copyright. en
dc.subject Xeroderma Pigmentosum en_US
dc.subject Mutations en_US
dc.subject XPA gene en_US
dc.subject Mutation detection en_US
dc.subject Human Genetics en_US
dc.subject.lcsh Thesis (M.S.)--American University in Cairo en_US
dc.title Identification of XPA and XPC gene mutations in patients with xeroderma pigmentosum en_US
dc.type Text en_US
dc.subject.discipline Biotechnology en_US
dc.rights.access This item is restricted for 2 years from the date issued en_US
dc.contributor.department American University in Cairo. Dept. of Biology en_US
dc.embargo.lift 2020-05-22T09:30:38Z
dc.description.irb American University in Cairo Institutional Review Board approval has been obtained for this item. en_US
dc.contributor.committeeMember Amr, Khalda
dc.contributor.committeeMember El-Kamah, Ghada
dc.contributor.committeeMember Azzazy, Hassan
dc.contributor.committeeMember Gad, Yehia Zakaria


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  • Theses and Dissertations [1728]
    This collection includes theses and dissertations authored by American University in Cairo graduate students.

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