نتایج جستجو برای: ivsi 110 mutation
تعداد نتایج: 330963 فیلتر نتایج به سال:
BACKGROUND Hemoglobinopathies are the most common inherited diseases worldwide. Various methods for genotyping of hemoglobin, beta (HBB) gene mutations have been reported, but there is need for a high sample-throughput, cost-effective method for simultaneous screening of several mutations. We report a method that combines the high detectability and dynamic range of chemiluminescence with the hi...
بتا تالاسمی یکی از شایع ترین بیماری های ژنتیکی در ایران است، بیش از دو میلیون حامل بتا تالاسمی در ایران وجود دارد. در دو دهه ی اخیر، جهش های ژن بتاگلوبین در چندین استان مورد بررسی قرار گرفته است. ناهمگنی ژنتیکی- قومی در ایران، باعث ظهور انواع متفاوت جهش ها، در این ژن شده است. مقایسه ی بین استان های مختلف نشان می دهد که پراکندگی جهش ها به طور قابل ملاحظه ای در نوع و فراوانی متفاوت است. تاکنون حد...
Introduction: Epidemics and deaths caused by influenza viruses are an important concern worldwide. The use of neuraminidase inhibitors such as oseltamivir is an effective and valuable way to treat the diseases caused by these viruses. However, the mutation in several parts of the gene leads to the emergence of drug-resistant strains, and an ever-increasing rise in drug-resistant strains is a gl...
Primary hyperoxaluria type 1 (PH1) is a rare genetic disease characterized by excessive oxalate accumulation in plasma and urine, resulting in various phenotypes because of allelic and clinical heterogeneity. This study aimed to detect disease-associated genetic mutations in three PH1 patients in a Chinese family. All AGXT exons and 3 common polymorphisms which might synergistically interact wi...
background: the double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. in addion, definite characterizaon of co-inheritance of α- and β-thalassemia heterozygous carriers may change the process of genec counseling. materials and methods: an iranian couple with low hematological indices was analyzed for α-globin gene deleons using mulplex g...
OBJECTIVE To evaluate the molecular make up of hemoglobin E-Beta thalassemia to facilitate diagnosis, genetic counseling and prenatal diagnosis in Uttar Pradesh. DESIGN DNA analysis. SETTING Referred hemolytic anemia cases to Genetics OPD of a tertiary care center. SUBJECTS 21 families of HbE-thalassemia of which 19 were of UP origin. METHODS The patient and obligate carriers in their f...
Background: The double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. In addion, definite characterizaon of co-inheritance of α- and β-thalassemia heterozygous carriers may change the process of genec counseling. Materials and Methods: An Iranian couple with low hematological indices was analyzed for α-globin gene deleons using mulpl...
The aim of this prospective study was to evaluate the long-term efficacy and safety of hydroxyurea (HU) in patients with sickle cell disease (SCD). Thirty-four patients with sickle cell anemia (hemoglobin S [HbS]/HbS), 131 with HbS/ 0-thal, and 165 with HbS/ -thal participated in this trial. HU was administered to 131 patients, whereas 199 patients were conventionally treated. The median follow...
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