Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens
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چکیده
منابع مشابه
The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens.
Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed l...
متن کاملMolecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.
Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia. Nearly 75% of men with CBAVD have at least 1 detectable common mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The different alleles at the (TG)(m)(T)(n) polymorphic locus at the 3' end of human CFTR intron 8 determine the efficiency of exon 9 splicing. To st...
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از محوری ترین اثراتی که یک فیلم سینمایی ایجاد می کند دیالوگ هایی است که هنرپیش گان فیلم میگویند. به زعم یک فیلم ساز, یک شیوه متأثر نمودن مخاطب از اثر منظوره نیروی گفتارهای گوینده, مثل نیروی عاطفی, ترس آور, غم انگیز, هیجان انگیز و غیره, است. این مطالعه به بررسی این مسأله مبادرت کرده است که آیا نیروی فراگفتاری هنرپیش گان به مثابه ی اعمال گفتاری در پنج فیلم هالیوودی در نسخه های دوبله شده باز تولید...
15 صفحه اولThe CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens
PURPOSE To evaluate the significance of molecular detection of cystic fibrosis transmembrane conductance regulator (CFTR) M470V, intron 8 poly-T, and intron 8 TG-repeats in congenital bilateral absence of the vas deferens (CBAVD). METHODS Eighty-nine male patients with CBAVD and 103 healthy males were included in this study. Polymerase chain reaction was performed to amplify the polymorphic r...
متن کاملMolecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens.
It has previously been shown that defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are largely responsible for the condition of congenital bilateral absence of the vas deferens (CBAVD), without associated renal abnormalities, in Caucasian populations. To assess the involvement of the CFTR in CBAVD in a population with presumed low cystic fibrosis (CF) frequency, we...
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ژورنال
عنوان ژورنال: Molecular Human Reproduction
سال: 2006
ISSN: 1360-9947,1460-2407
DOI: 10.1093/molehr/gal046