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Clinical, biochemical and molecular diagnosis of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations among Egyptian patients with congenital bilateral absence of the vas deferens : A pilot study / Tarek Abdel Azim Ramzy Osman Ramzy Youssef ; Supervised Fayza Abdelhamid Hassan , Medhat Kamel Amer , Mona Mohamed Fathy

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Tarek Abdelazim Ramzy Osman Ramzy Youssef , 2015Description: 107 P. : charts , facsimiles ; 25cmOther title:
  • التشخيص الاكلينيكى و الكيميائى الحيوى و الجوزيئى للطفرات الجينية لجين منظم التوصيل عبر غشاء التليف الكيسى فى المرضى المصريين المصابين بمرض الغياب الثنائى الخلقى للقناتين الدافقتين [Added title page title]
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Dissertation note: Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: CBAVD is a rare disease causing infertility, by causing absence of the vas deference and may affect seminal vesicles, it represent around 1-2% of the cause of azoospermia.It may be apart of cystic fibrosis, an autosomal recessive disorder, caused by mutations of the CFTR gene. Delta F508 was thought to be the leading mutation know, and may be associated with poly T ( 5T ) in the IVS-8 causing splice site missing .Te aim of the study is to detect the frequent mutations of the CFTR in CBAVD and the association of delta F508 and 5T.The study included 14 patients with CBAVD, PCR amplification of the genomic DNA for the CFTR gene and sequencing of the IVS-8 for patients having mutaqtions.The study showed that the most frequent mutation was the delta F508 with a frequency of 20%
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Item type Current library Home library Call number Copy number Status Date due Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.Ph.D.2015.Ta.C (Browse shelf(Opens below)) Not for loan 01010110069463000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.Ph.D.2015.Ta.C (Browse shelf(Opens below)) 69463.CD Not for loan 01020110069463000

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

CBAVD is a rare disease causing infertility, by causing absence of the vas deference and may affect seminal vesicles, it represent around 1-2% of the cause of azoospermia.It may be apart of cystic fibrosis, an autosomal recessive disorder, caused by mutations of the CFTR gene. Delta F508 was thought to be the leading mutation know, and may be associated with poly T ( 5T ) in the IVS-8 causing splice site missing .Te aim of the study is to detect the frequent mutations of the CFTR in CBAVD and the association of delta F508 and 5T.The study included 14 patients with CBAVD, PCR amplification of the genomic DNA for the CFTR gene and sequencing of the IVS-8 for patients having mutaqtions.The study showed that the most frequent mutation was the delta F508 with a frequency of 20%

Issued also as CD

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