نتایج جستجو برای: i mutation

تعداد نتایج: 1302420  

Journal: :Experimental animals 2011
Hirotake Imanishi Mutsumi Yokota Masayuki Mori Akinori Shimizu Kazuto Nakada Jun-Ichi Hayashi

This study determined pathogenicity of an A11181G mtDNA mutation found in a senescence-accelerated mouse strain, SAMP8. The mutation was at a highly conserved site of the mt-Nd4 gene, which encodes one of the respiratory complex I subunits. The young SAMP8 expressed reduced complex I activity, which is controlled by both nuclear and mitochondrial DNA (mtDNA). To exclude the nuclear effects, we ...

Dianat T, Heidari MM Khatami M Moshtaghiun M

Background: Varicocele is the abnormal tortuosity and dilatation of the veins of the pampiniform plexus within the spermatic cord. Varicocele-related pathology is suspected in infertility as it leads to elevated temperatures in the scrotum and testes, which has a deleterious effect on spermatogenesis. In Varicocele patients, ROS production is enhanced and total antioxidant capacity (TAC) is red...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پزشکی 1390

انمی داسی شکل و ا نمی کولی جز شایع ترین بیماریهای وراثتی در انسان ها در سرتاسر دنیا بوده که هزینه های درمانی هنگفتی را بر بیماران و سیستم بهداشتی کشورها می گذارد. انمی داسی شکل اولین اختلال ژنتیکی بوده که در حدود 58 سال پیش مکانیسم ژنتیکی اش توصیف شده و اختلالش ناشی از یک point mutation در زنجیره بتای همو گلوبین می باشد که سبب dysfunction پروتین هموگلوبین شده و عامل عوارض بالینی در مبتلایان می ...

Background: In various cancers, Ganoderic Acid A (GAA), an active triterpenoid derived from Ganoderma Background: Thalassemia refers to a category of inherited disorders resulting from defects in synthesizing one or several chains of hemoglobin (Hb). The present study aimed to determine the frequency of alpha and beta-thalassemia mutations in Kurdistan province, Iran. Materials and Methods: In...

Journal: :Journal for scientific research. Medical sciences 2001
Mehmet Simsek Nadia Al-Wardy Mazin Al-Khabory

OBJECTIVE To develop a polymerase chain reaction (PCR) based test for the detection of a common frame-shift mutation (35delG) in the connexin-26 (GJB2) gene, and to investigate the status of this mutation in Oman. METHOD A PCR test, based on site-directed mutagenesis, was developed for the 35delG mutation. A mutagenesis primer generated an EcoN I site in a short (87 bp) DNA fragment amplified...

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