An Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production
نویسندگان
چکیده
منابع مشابه
Transient Expression Assay of Aγ-588 (A/G) Mutations in the K562 Cell Line
Background: In the previous study, we have shown that the presence of A allele at position -588 in Aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Aγ-globin gene expression to ameliorate the severity of the ...
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An inherited hypochromic microcytic anemia transmitted in an autosomal manner has been observed in three generations of an English family. Affected members had the hallmarks of heterozygous @-thalassemia, ie, elevated levels of hemoglobin A, and imbalanced globin chain synthesis. However, despite extensive sequence analysis, no mutations could be found in or around the @-globin genes of either ...
متن کاملHbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server.
We have constructed a relational database of hemoglobin variants and thalassemia mutations, called HbVar, which can be accessed on the web at http://globin.cse.psu.edu. Extensive information is recorded for each variant and mutation, including a description of the variant and associated pathology, hematology, electrophoretic mobility, methods of isolation, stability information, ethnic occurren...
متن کاملtransient expression assay of aγ-588 (a/g) mutations in the k562 cell line
background: in the previous study, we have shown that the presence of a allele at position -588 in aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. therefore, we decided to investigate whether this allele (a allele at -588) could result in an increase in aγ-globin gene expression to ameliorate the severity of the ...
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Hemoglobin and globin genes are important models for studying protein and gene structure, function and regulation. We reviewed the main aspects of regulation of human alpha-globin synthesis, encoded by two adjacent genes (alpha(2) and alpha(1)) clustered on chromosome 16. Their expression is controlled mainly by a regulatory element located 40 kb upstream on the same chromosome, the alpha-major...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2017
ISSN: 1471-2350
DOI: 10.1186/s12881-017-0450-3