نتایج جستجو برای: sscp/ heteroduplex analysis

تعداد نتایج: 2825686  

Journal: :PCR methods and applications 1994
A V Peeters M J Kotze

Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, 7505, South Africa The ability to detect mutations in individuals and the subsequent DNA diagnosis of genetic diseases are becoming increasingly important for the researcher and diagnostician. Single-base substitutions (80-90%) can be detected by single-strand conformation polymorphism (SSCP) (1) or hetero...

ژورنال: :مجله دانشگاه علوم پزشکی شهرکرد 0
مریم طاهرزاده قهفرخی mryam tahrzadehgharofi عفت فرخی efat farkhoi سید ابوالفتح شیرمردی seyed abolfateh shirmardi جواد صفاری چالشتری javad safari chaleshtori سمیه اسدی somayeh asadi کیهان قطره سامانی keyhan ghatreh samani مرضیه ابوالحسنی

زمینه و هدف: وقوع ناشنوایی پیش زبانی حدود 1 در 1000 تولد است که بیش از 60% موارد آن ارثی هستند. ناشنوایی اختلالی هتروژن محسوب می شود و ممکن است به علل محیطی، ژنتیکی یا هر دو رخ دهد. اخیراً جهش های ژن dfnb59 که رمز کننده پروتئین پژواکین است به عنوان عامل ناشنوایی نوع عصبی معرفی شده اند. این مطالعه با هدف بررسی نوع و فراوانی جهش های ژن dfnb59 در 100 ناشنوای غیرسندرومی، در استان چهارمحال و بختیاری ...

Journal: :Clinical chemistry 1997
B G Henderson P R Wenham J P Ashby G Blundell

Familial defective apolipoprotein (apo) B-100 (FDB), a condition that may give rise to hypercholesterolemia, is caused by mutations around codon 3500 of the apo B gene. We have compared the ability of three molecular-scanning techniques, heteroduplex analysis, single-strand conformation polymorphism (SSCP) analysis, and denaturing gradient gel electrophoresis (DGGE), to detect these mutations i...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه پیام نور - دانشگاه پیام نور استان تهران - دانشکده علوم پایه 1388

چکیده: مقدمه: هایپرکلسترولمی فامیلی (fh) بیماری غالب اتوزومال است و با افزایش سطح لیپوپروتئین با دانسیته کم (در پلاسما) ، لیپید در تاندون و رگها تجمع می یابد. این بیماری با آترواسکلروز نابهنگام و افزایش خطر بیماری های قلبی عروقی (chd ) همراه می شود. هایپرکلسترولمیای فامیلی به همراه جهش در ژن گیرنده لیپوپروتئین با دانسیته کم (ldlr ) ایجاد می شود. از اهداف این مطالعه بررسی تغییرات ژن ldlr در گرو...

Journal: :iranian red crescent medical journal 0
negar moradipour cellular and molecular research center, shahrekord university of medical sciences, shahrekord, ir iran payam ghasemi-dehkordi cellular and molecular research center, shahrekord university of medical sciences, shahrekord, ir iran fatemeh heibati clinical biochemistry research center, shahrekord university of medical sciences, sharekord, ir iran shahrbanuo parchami-barjui cellular and molecular research center, shahrekord university of medical sciences, shahrekord, ir iran marziyeh abolhasani cellular and molecular research center, shahrekord university of medical sciences, shahrekord, ir iran ahmad rashki department of physiopathology, faculty of veterinary medicine, zabol university, zabol, ir iran

conclusions more studies are needed to investigate the relationship between other parts of this gene with hearing loss in different populations through the country. more research could clarify the role of this gene and its relation with deafness and provide essential information for the prevention and management of auditory disorders caused by genetic factors in the iranian population. backgrou...

Journal: :Journal of clinical microbiology 2004
Caroline C Soares Eduardo M Volotão Maria Carolina M Albuquerque Carlos M Nozawa Rosa Elisa C Linhares Dmitriy Volokhov Vladimir Chizhikov Xiaoyan Lu Dean Erdman Norma Santos

Single-stranded conformation polymorphism (SSCP) analysis and heteroduplex mobility assays (HMAs) were used to identify and genotype enteric adenoviruses (EAd). The results were compared to those of restriction endonuclease assays, species-specific PCRs, and direct nucleotide sequence analyses. Of the 31 stool samples tested, 15 isolates were identified as EAd and 7 were identified as nonenteri...

Journal: :تحقیقات دامپزشکی 0
غلامرضا نیکبخت بروجنی دانشگاه تهران سیدمهدی امام دانشگاه تهران همایون محمودزاده دانشگاه تهران ندا برجسته دانشگاه تهران

interferon gamma (ifn-g) is a cytokine produced by activated t lymphocytes and natural killer cells. it plays an important role in innate and adaptive immunity. ifn-g gene is polymorphic and its haplotype has been associated with resistance to nematode infestations which are the most important parasites of domestic sheep worldwide. to evaluate ifn-g polymorphism in iranian shaul sheep populatio...

Journal: :Analytical sciences : the international journal of the Japan Society for Analytical Chemistry 2004
Chunxia Zhao Guowang Xu Xianzhe Shi Jianmei Ma Yan Zhang Shen Lv Qianfeng Weng Qing Yang

Fluorescent-based single-strand conformation polymorphism (F-SSCP) analysis with capillary electrophoresis (CE) is the most common method for the detection of mutation because of its high sensitivity and resolution. In this study, we prepared an inexpensive linear polyacrylamide (LPA), and successfully applied it to CE-SSCP analysis and tandem CE-SSCP/heteroduplex analysis (HA) of the P53 gene ...

Journal: :BioTechniques 2002
Lu Lu Hiren Patel John J Bissler

Here we describe DNA sample preparation methods that allow the rapid, simultaneous generation of both single-stranded conformational polymorphism (SSCP) and heteroduplex DNA elements from a single sample in a single tube, which are suitable for direct injection into a capillary electrophoresis (CE) instrument with excellent sensitivity of genetic mutation detection. The p53 gene was used as a m...

2009
Panayiotis G. Menounos George P. Patrinos

Single strand conformation polymorphism (SSCP) and heteroduplex analysis (HDA) are two of the most popular electrophoresis-based mutation detection methods. Coupled to DNA amplification of the sequence to be analyzed, these techniques have become the methods of choice for a number of molecular diagnostic laboratories. This can be explained mainly by the numerous advantages, namely their technic...

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