Author: Tarek Abdelazim Ramzy Osman Ramzy Youssef/ Title: 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 :

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العنوان

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 :

الناشر

Tarek Abdelazim Ramzy Osman Ramzy Youssef ,

المؤلف

Tarek Abdelazim Ramzy Osman Ramzy Youssef

تاريخ النشر

2015

عدد الصفحات

107 P. :

الفهرس

Only 14 pages are availabe for public view

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120

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Abstract

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%