نتایج جستجو برای: globin mutation
تعداد نتایج: 297002 فیلتر نتایج به سال:
Mouse models that carry mutations causing thalassemia represent a suitable tool to test in vivo new mutation-specific therapeutic approaches. Transgenic mice carrying the β-globin IVSI-6 mutation (the most frequent in Middle-Eastern regions and recurrent in Italy and Greece) are, at present, not available. We report the production and characterization of a transgenic mouse line (TG-β-IVSI-6) ca...
Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of gamma-globin genes persists into adult life. Several point mutations have been associated with the increased gamma-globin gene promoter activity. We evaluated the -195 (C-->G) mutation by a functional in vitro assay based on the luciferase reporter gene system. The results indicated that the in...
AIMS To identify a novel beta globin gene mutation found in a Chinese family, and also to assess its functional consequences. METHODS Haematological analysis was performed on all family members. The 23 common mutations of beta thalassaemia found in Chinese populations were detected by means of a reverse dot blot method. Direct DNA sequencing of polymerase chain reaction (PCR) amplified comple...
BACKGROUND We aimed to determine the incidence of co-inheritance as well as interaction of sickle cell trait (SCT) and α(thal)/β(thal) mutations in south and south central of Iran. METHOD We employed a PCR and restriction fragment length polymorphism techniques to confirm diagnosis of sickle cell trait. All subjects were screened for any α/β -thalassemia mutations using a gap-polymerase chain...
The beta-globin locus control region (LCR) is a powerful regulatory element required for high-level globin gene expression. We have generated transgenic mouse lines carrying a beta-globin locus yeast artificial chromosome lacking the LCR to determine if the LCR is required for globin gene activation. beta-Globin gene expression was analyzed by RNase protection, but no detectable levels of epsil...
Aims: To identify a novel b globin gene mutation found in a Chinese family, and also to assess its functional consequences. Methods: Haematological analysis was performed on all family members. The 23 common mutations of b thalassaemia found in Chinese populations were detected by means of a reverse dot blot method. Direct DNA sequencing of polymerase chain reaction (PCR) amplified complete b g...
HemoglobinE (HbE), havin| the substitutionof glutamic acidwithlysineat the 26thamino acidresidue onp-globin, is the most common mutaion of the p-globin gei" in South East Asia. A compound heteroqgote of this mutation with another mutation in the $-globin gene Iead.s to o'rrrr)r"h"^otyi, disease known as hemoglobin Et\-thalnssemia d.isease, where repeated blood transfusions are neededIn an Ind.o...
background: approximately 180 mutations have been described in β-thalassemia worldwide with specific spectrum in each ethnic population. this study determines the spectrum and the frequency of β-thalassemia mutations in patients with β-thalassemia trait and sickle cell-β-thalassemia. methods: fifteen compound heterozygous sickle cell thalassemia (sct) and 23 β-thalassemia trait patients were ...
An American black woman was found to have the phenotype of moderately severe a-thalassemia normally associated with the loss of two to three a-globin genes despite an a-gl9bin gene map that demonstrated the loss of only a single a-globin gene (-a/ aa). Several individuals in her kindred with normal a-globin gene mapping studies (aa/aa) had mild a-thalassemia hematologic values consistent with t...
Lemur beta-related globin genes have been isolated and sequenced. Orthology of prosimian and human epsilon-, gamma-, and beta-related globin genes was established by dot-matrix analysis. All of these lemur globin genes potentially encode functional beta-related globin polypeptides, though precisely when the gamma-globin gene is expressed remains unknown. The organization of the 18-kb brown lemu...
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