نتایج جستجو برای: ymdd mutation

تعداد نتایج: 291493  

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 ...

Journal: :Journal of the Formosan Medical Association = Taiwan yi zhi 2012
Hsin-Wu Lai Chiu-Chun Chang Tan-Hsia Chen Ming-Chang Tsai Tzy-Yen Chen Chun-Che Lin

BACKGROUND/PURPOSE The emergence of lamivudine (LAM)-resistant mutants after prolonged LAM therapy may reduce its therapeutic effects against hepatitis B virus (HBV). Adefovir dipivoxil (ADV) is an effective treatment of LAM-resistant HBV infections. However, only limited data are available regarding the safety and efficacy of ADV for treating HBsAg-positive renal transplant recipients. METHO...

Journal: :Annals of the Academy of Medicine, Singapore 2007
Bernard Y H Thong Ee Tzun Koh Hiok Hee Chng Wan Cheng Chow

INTRODUCTION The aim of this study was to ascertain the outcomes of chronic hepatitis B (CHB) infection following immunosuppressive therapy in 38 consecutive oriental patients with systemic rheumatic diseases. MATERIALS AND METHODS This is a retrospective consecutive, non-comparative study. RESULTS The majority of patients were female (26, 68.4%), predominantly Chinese (92.1%), with a mean ...

Journal: :iranian journal of otorhinolaryngology 0
shahin abdollahi-fakhim department of pediatric otorhinolaryngology, children’s hospital, tabriz university of medical sciences, tabriz, iran. mehrdad asghari estiar department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran. parizad varghaei faculty of medicine, tabriz university of medical sciences, tabriz, iran mahdi alizadeh sharafi tabriz genetic analysis center (tgac), tabriz university of medical sciences, tabriz, iran. masoud sakhinia faculty of medicine, university of liverpool, liverpool, united kingdom. ebrahim sakhinia tuberculosis and lung disease research center, tabriz university of medical sciences, tabriz, iran.

introduction: cleft lips and cleft palates are common congenital abnormalities in children. various chromosomal loci have been suggested to be responsible the development of these abnormalities. the present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [mthfr] a1298c and c677t) that might contribute into the etiology of the...

Hassan Dastsooz, Majid Fardaei, Nazanin Vahedi

Objective(s):  Denaturing high performance liquid chromatography (DHPLC) is a high throughput approach for screening DNA sequence variations. To assess oven calibration, cartridge performance, buffer composition and stability, the WAVE Low and High Range Mutation Standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. The purpose of this study was to provi...

Journal: :iranian journal of public health 0
yu-feng wen school of public health, wan nan medical college, wuhu, china. chao jiang school of public health, wan nan medical college, wuhu, china. xian-feng cheng school of public health, wan nan medical college, wuhu, china. zhi-ping zhang centre for disease prevention and control of anqing city, anqing, china. bai-feng chen school of public health, wan nan medical college, wuhu, china. yu zhu school of public health, wan nan medical college, wuhu, china.

the miru-vntr polymorphism and katg463 mutation are used to genotype the mycobacterium tuberculosis, but the correlation between them and inh-resistance were unknown. this study was aimed to explore whether etre polymorphism and katg463 mutation could predict the inh-resistance, and the relationship between etre polymorphism and katg463 mutation.the etre, katg463 mutation and drug resistance in...

Journal: :international journal of reproductive biomedicine 0
zohreh hojati somaye heidari majid motovali-bashi

background: about 10% of infertilities with obstructive azoospermia are congenital and caused by cf gene mutations. m469i mutation was observed for the first time in taiwanese patients. this mutation not only causes cf, but also may be the origin of infertility too. objective: in this study, we aimed in designing a rapid, reliable rflp-pcr procedure for detection of m469i mutation. the correlat...

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