نتایج جستجو برای: beta globin introns

تعداد نتایج: 201054  

Journal: :Molecular biology and evolution 1999
S Dewilde M L Van Hauwaert K Peeters J Vanfleteren L Moens

The high-molecular-weight extracellular hemoglobin of Daphnia pulex is composed of at least three different didomain globin chains. The primary structure of one of these chains was determined at the protein and cDNA levels. Each globin domain of the polypeptide chain displays the standard structural characteristics. The first domain is preceded by a 30-residue extension containing an 18-residue...

Journal: :مجله بین المللی زیست و زیست پزشکی 0
haleh akhavan-niaki genetic laboratory of amirkola children's hospital, babol university of medical sciences, babol, iran reza youssefi kamangari genetic laboratory of amirkola children's hospital, babol university of medical sciences, babol, iran ali banihashemi genetic laboratory of amirkola children's hospital, babol university of medical sciences, babol, iran mandana azizi genetic laboratory of amirkola children's hospital, babol university of medical sciences, babol, iran

beta thalassemia is the  most common autosomal recessive disorder. the present study reports a rare β globin gene mutation, hbb: c.180g>a: codon 59 (aag/aaa), in a patient from gilan province, northern iran. nucleotide sequencing of amplified dna belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a g>a conversion at the third position of codon 59 o...

Journal: :iranian journal of public health 0
m habibi roudknar h najmabadi p derakhshandeh dd farhud

beta-thalassemia, by its high frequency and heterogenecity, constitues a real problem of health in iran. aboute 13 beta globin mutations encompass 70-90% of mutations spectrum in iran, the rest are rare or unknown. in this study six mutations of the codon ivsi-130(g-c), fr16 (-c), codon35 (-c), fr23/24(-g), codon8 (+g) and codon 20 (gtg-gag) were recognized and added to spectrom of beta globin ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1990
S J Hoffman D L Looker J M Roehrich P E Cozart S L Durfee J L Tedesco G L Stetler

Synthetic genes encoding the human alpha- and beta-globin polypeptides have been expressed from a single operon in Escherichia coli. The alpha- and beta-globin polypeptides associate into soluble tetramers, incorporate heme, and accumulate to greater than 5% of the total cellular protein. Purified recombinant hemoglobin has the correct stoichiometry of alpha- and beta-globin chains and contains...

Ali Banihashemi, Haleh Akhavan-Niaki, Mandana Azizi, Reza Youssefi Kamangari,

Beta thalassemia is the  most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...

Journal: :Blood 1996
D Donze P H Jeancake T M Townes

Hemoglobin A2 (HbA2; alpha 2 delta 2) is a powerful inhibitor of HbS (alpha 2 beta 2(3)) polymerization. However, HbA2 levels are normally low in sickle cell patients. We show that a major reason for low delta-globin gene expression is the defective CACCC box at -90 in the delta-globin promoter. When the CACCC box defect in delta is corrected, expression of an HS2 delta /Luciferase reporter is ...

احمدی, محمدحسین, امیری‌‌زاده, ناصر, ساروخانی, محمدرضا,

   Background and Aim: About 13 beta-globin mutations encompass 70-90% of the mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify the rare or unknown beta-globin mutations in Qazvin province.   Materials and Methods: In this descriptive-analytic study, EDTA-containing venous blood...

Journal: :Haematologica 2009
Kanitta Srinoun Saovaros Svasti Worrakavee Chumworathayee Jim Vadolas Phantip Vattanaviboon Suthat Fucharoen Pranee Winichagoon

BACKGROUND beta-thalassemia occurs from the imbalanced globin chain synthesis due to the absence or inadequate beta-globin chain production. The excessive unbound alpha-globin chains precipitate in erythroid precursors and mature red blood cells leading to ineffective erythropoiesis and hemolysis. DESIGN AND METHODS In vitro globin chain synthesis in reticulocytes from different types of thal...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2008
Juan C Opazo Federico G Hoffmann Jay F Storz

Phylogenetic reconstructions of the beta-globin gene family in vertebrates have revealed that developmentally regulated systems of hemoglobin synthesis have been reinvented multiple times in independent lineages. For example, the functional differentiation of embryonic and adult beta-like globin genes occurred independently in birds and mammals. In both taxa, the embryonic beta-globin gene is e...

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