Tıpta UzmanlıkAçık Erişim

HOX-B7 gene mutation in VUR patient

2016
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Danışman: Prof. Dr. Nihat Satar

Özet (EN)

Introduction: Primary vesicoureteral reflux (pVUR) is common dissase and genetically heterogenous urinary abnormality tract in children. To explore that mutation of Hox-B7 gene may cause primary VUR. Methods: Between May 2014 – July 2014, 29 patient were identified from referred to our urology clinic for the evaluation of VUR. PVUR was diagnosed by a voiding cystouretrogram. Other urological malformation were ruled out. A quastionnaire fill to patients with pVUR aprroved. Genomic DNA was extracted from all patients blood samples. The resulting sequences based candidate gene approach was used to screen the Hox B7 mutations Results: Mean age of patients 69 (±37.4) months, 21 (72%) patients has recurrent urinary tract infection and 25 (86%) patient was taken the prophylaxis. 18 (62%) patient has renal scarring on scintigraphy. We found 20 (68%) patients single genetic polymorphism Hox-B7 (exon 14 and 15) 17 patients has polymorphism on exon 14. This mutation seen at non encoding protein area. But data results shows that this mutation may cause the disease. Conclusions: Our study demonstrated that Hox B7 gene mutation may cause pVUR in the pediatric population but needed more study for understanding role of VUR mechanism

Yazar

Dr. Fatih Gökalp

Bu Yayına Nasıl Atıf Yapılır

Fatih Gökalp (Medical Specialty Thesis). HOX-B7 gene mutation in VUR patient, 2016, Çukurova University.

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