Genetic study of three-prime repair exonuclease (trex1) in the susceptibility to systemic lupus erythematosus (SLE) among Egyptian patients / Dina Abdelrahman Ibrahim Eldessouki ; Supervised Geilan Abdelmoneim Mahmoud , Ghada Mohamed Elhossainy Abdelsalam , Marwa Hassan Niazy

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Dina Abdelrahman Ibrahim Eldessouki

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TextLanguage: English Publication details: Cairo : Dina Abdelrahman Ibrahim Eldessouki , 2015Description: 146 P. : charts , facsimiles ; 25cmOther title:

دراسة وراثية توضح دور تريكس1فى قابلية التأثير لمرض الذئبة الحمراء بين المرضى المصريين [Added title page title]

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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Rheumatology and Rehabilitation Summary: Objective: To find out the role of TREX1 and its variants in the genetic susceptibility to systemic lupus erythematosus (SLE) among Egyptian patients and to correlate the clinical manifestations and important laboratory data in SLE patients with the genetic testing. Results: Our work showed 28 patients with TREX1 polymorphism (c.531C>T) in a total of 50 SLE patients (56%), and in 18 out of 50 in the control group (36%) (p value=0.070). TREX1 polymorphism was present in 56% of SLE patients in group I, while in 36% of SLE cases in group II. The polymorphism was positively associated with neuropsychiatric manifestations and chilblains. There was a statistically significant value in cases with oral ulcers (p value=0.004), photosensitivity (p value=0.047) and seizures (p value=0.029). Conclusion: A recurrent polymorphism (c.531C>T) was found in higher frequency among Egyptian patients in comparison to control group especially in cases with NPSLE, seizures and chilblains; with minor allele frequency of 0.28 in cases and 0.18 in controls. Cases with positive consanguinity & family history showed higher frequency for TREX1 polymorphism, however with no statistical significant difference

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Item type	Current library	Home library	Call number	Copy number	Status	Barcode
Thesis	قاعة الرسائل الجامعية - الدور الاول	المكتبة المركزبة الجديدة - جامعة القاهرة	Cai01.11.32.M.Sc.2015.Di.G (Browse shelf(Opens below))		Not for loan	01010110066781000
CD - Rom	مخـــزن الرســائل الجـــامعية - البدروم	المكتبة المركزبة الجديدة - جامعة القاهرة	Cai01.11.32.M.Sc.2015.Di.G (Browse shelf(Opens below))	66781.CD	Not for loan	01020110066781000

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Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Rheumatology and Rehabilitation

Objective: To find out the role of TREX1 and its variants in the genetic susceptibility to systemic lupus erythematosus (SLE) among Egyptian patients and to correlate the clinical manifestations and important laboratory data in SLE patients with the genetic testing. Results: Our work showed 28 patients with TREX1 polymorphism (c.531C>T) in a total of 50 SLE patients (56%), and in 18 out of 50 in the control group (36%) (p value=0.070). TREX1 polymorphism was present in 56% of SLE patients in group I, while in 36% of SLE cases in group II. The polymorphism was positively associated with neuropsychiatric manifestations and chilblains. There was a statistically significant value in cases with oral ulcers (p value=0.004), photosensitivity (p value=0.047) and seizures (p value=0.029). Conclusion: A recurrent polymorphism (c.531C>T) was found in higher frequency among Egyptian patients in comparison to control group especially in cases with NPSLE, seizures and chilblains; with minor allele frequency of 0.28 in cases and 0.18 in controls. Cases with positive consanguinity & family history showed higher frequency for TREX1 polymorphism, however with no statistical significant difference

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