نتایج جستجو برای: genetic mutation
تعداد نتایج: 825720 فیلتر نتایج به سال:
abstract β-thalassemia major (β –tm) is the most common thalassemia severe phenotype among iranians. in recent years, molecular understanding of pathogenesis of β –tm has provided a great opportunity regarding diagnostic issues. creating comprehensive molecular databases provides highly sensitive diagnostic tools for β –tm and effective prenatal diagnosis (pnd) molecular screening tests. despit...
epilepsy is one of the most common neurological disorders. studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. moreover, some chromosomal aberration including ring chromosomes will result i...
genetic diversity among plants sprouted from seven year old clones of mulberry (morus indica var. s36) was studied using molecular markers such as issr and rapd. the clones showed significant variability in sex expression and the sprouting behavior. these changes were appeared after seven years of rigorous pruning and training (pruned once in every 3-4months). genetic diversity analysis reveale...
background hereditary hemochromatosis (hh) is a very rare disease in iran and reported cases are all negative for hfe mutation. we report a family affected by severe juvenile hemochromatosis (jh) with a detailed molecular study of the family members. methods we studied a pedigree with siblings affected by juvenile hh and followed them for 3 years. microsatellite and gene sequencing analysis was...
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mutation induction is considered as an effective way to enrich plant genetic variation, particularly fortraits with a very low level of genetic variation. this research was conducted to assess genetic variationinduced by gamma radiation in m2 and m3 mutant lines of canola (brassica napus l.) by ssr and morphologicalcharacteristics and to identify useful mutants in terms of agronomic traits. six...
inflammatory bowel disease, coronary artery disease, cerebrovascular disease, hypertension, diabetes, tumours, are examples of chronic degenerative diseases that have a high prevalence in developed nations. these chronic-non-communicable diseases have multifactorial aetiologies that considered to be caused by the interaction of environmental risk factors with multiple predisposing genes. gen...
genetic diversity amongst 21 induced mutant clones tolerant to salinity along with one non-irradiated sensitive clone of banana (musa acuminata cv. dwarf cavendish (aaa)) were studied using morphological and random amplified polymorphic dna (rapd) markers. out of the 30 phenotypic indices screened, 23 were polymorph and two traits, leaf habit and blotches color, were differentiated by non-irrad...
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...
autosomal polycystic kidney disease (adpkd) is a genetic disorder with two causal pkd-1 and pkd-2. genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in african populations. we report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to adpkd. molecular genetic testing found a del...
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