A 65 bp duplication/insertion in exon II of the -globin gene causing 0-thalassemia
نویسندگان
چکیده
منابع مشابه
The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran
Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out accor...
متن کاملA 65 bp deletion in band 3 gene of beta-thalassemia patients in Indonesia.
We investigated whether in addition to the well known genetic alteration in red blood cell membrane band 3 protein, a deletion of 9 amino acids leading to ovalocytosis, other mutations to band 3 also exist. In 12% of our thalassemia major patients investigated, we found two bands in the agarose gel-electrophoresis of PCR products from band 3 gene with a difference of 65 +/- 10 bp, equivalent to...
متن کاملA 65 BP DELETION IN BAND 3 GENE OF b-THALASSEMIA PATIENTS IN INDONESIA
We investigated whether in addition to the well known genetic alteration in red blood cell membrane band 3 protein, a deletion of 9 amino acids leading to ovalocytosis, other mutations to band 3 also exist. In 12 % of our thalassemia major patients investigated, we found two bands in the agarose gel-electrophoresis of PCR products from band 3 gene with a difference of 65 ± 10 bp, equivalent to ...
متن کاملA New Mutation in IVS-1 of the Human Globin Gene Causing $ Thalassemia
A G to T transversion at the fifth nucleotide of the first intervening sequence (IVS-1 ) of the $-globin gene has been identified in cloned fi-thalassemia genes of two unrelated individuals. one of Mediterranean and the other of Anglo Saxon ancestry. In each patient the mutation was present in a different globin gene framework. defined by intragenic restriction site polymorphisms. thereby sugge...
متن کاملDominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.
Mutations producing beta-thalassemia reach individual gene frequencies greater than .01 in malarial-endemic regions because beta-thalassemia trait individuals have increased genetic fitness over that of normal individuals. Exon 3 of the beta-globin gene has been relatively spared as a site of common beta-thalassemia mutations. Frameshifts caused by the loss of a single nucleotide and nonsense m...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2007
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.10785