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008 160221s2015 ua dh f m 000 0 eng d
040 _aEG-GiCUC
_beng
_cEG-GiCUC
041 0 _aeng
049 _aDeposite
097 _aPh.D
099 _aCai01.11.07.Ph.D.2015.Ho.S
100 0 _aHoda Abdallah Ahmed
245 1 0 _aScreening hot-spot exons of COL7A1 gene in Egyptian patients with dystrophic epidermolysis bullosa /
_cHoda Abdallah Ahmed ; Supervised Lamia Ali Mansour , Laila Kamal Eldin Effat , Enas Hamdy Mahmoud
246 1 5 _aفى المرضى المصابين بالتحلل الجلدى الفقاعى الضمورىCOL7A1الكشف عن الطفرات الاكثر لجين
260 _aCairo :
_bHoda Abdallah Ahmed ,
_c2015
300 _a98 P. :
_bcharts . facsimiles ;
_c25cm
502 _aThesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
520 _aBackground: Dystrophic epidermolysis bullosa is a rare heritable skin disorder characterized by trauma- induced blistering and scarring. DEB is caused by mutation in the gene encoding type VII collagen (COL7A1). It is transmitted either in dominant (DDEB) or recessive (RDEB) mode. More than 730 different COL7A1 mutations have been identified in DEB. It has been described that approximately 75% of the DEB mutations occur in exons 73, 74 and 75. Objectives: To screen exons 73, 74 and 75 of COL7A1 gene, harboring majority of mutations (or hot-spot exons for mutation), in Egyptian patients with DEB. Results: In this study we identified one novel mutation (G2055R) in one family, this mutation was detected in exon73. This patient was homozygous for the mutation and the parents were heterozygote for the same mutation. Conclusion: The present study is the first molecular diagnostic report from Egypt. Study of whole COL7A1 gene is recommended to detect types and frequencies of COL7A1 gene mutations in Egyptian patients suffering from DEB. This study reveals novel disease-causing mutations in the COL7A1 gene
530 _aIssued also as CD
653 4 _aCOL7A1
653 4 _aDystrophic epidermolysis bullosa
653 4 _aNovel mutation
700 0 _aEnas Hamdy Mahmoud ,
_eSupervisor
700 0 _aLaila Kamal Eldin Effat ,
_eSupervisor
700 0 _aLamia Ali Mansour ,
_eSupervisor
856 _uhttp://172.23.153.220/th.pdf
905 _aNazla
_eRevisor
905 _aSoheir
_eCataloger
942 _2ddc
_cTH
999 _c55103
_d55103