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| Wenning,M.R.S.C.; Kimura,E.M.; Costa,F.F.; Saad,S.T.O.; Gervásio,S.; de Jorge,S.B.; Borges,E.; Silva,N.M.; Sonati,M.F.. |
| Seven unrelated patients with hemoglobin (Hb) H disease and 27 individuals with alpha-chain structural alterations were studied to identify the alpha-globin gene mutations present in the population of Southeast Brazil. The -alpha3.7, --MED and -(alpha)20.5 deletions were investigated by PCR, whereas non-deletional alpha-thalassemia (alphaHphalpha, alphaNcoIalpha, <FONT FACE="Symbol">aa</FONT>NcoI, alphaIcalpha and alphaTSaudialpha) was screened with restriction enzymes and by nested PCR. Structural alterations were identified by direct DNA sequencing. Of the seven patients with Hb H disease, all of Italian descent, two had the -(alpha)20.5/-alpha3.7 genotype, one had the --MED/-alpha3.7 genotype, one had the --MED/alphaHphalpha genotype and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-globin genes; Alpha-globin structural variants; Alpha-thalassemia; Hemoglobin H; Hb H disease; Hemoglobin variants; Hemoglobinopathies. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000000900008 |
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| Ribeiro,D.M.; Zaccariotto,T.R.; Santos,M.N.N.; Costa,F.F.; Sonati,M.F.. |
| The α-MRE is the major regulatory element responsible for the expression of human α-like globin genes. It is genetically polymorphic, and six different haplotypes, named A to F, have been identified in some population groups from Europe, Africa and Asia and in native Indians from two Brazilian Indian tribes. Most of the mutations that constitute the α-MRE haplotypes are located in flanking sequences of binding sites for nuclear factors. To our knowledge, there are no experimental studies evaluating whether such variability may influence the α-MRE enhancer activity. We analyzed and compared the expression of luciferase of nine constructs containing different α-MRE elements as enhancers. Genomic DNA samples from controls with A (wild-type α-MRE) and B... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Alpha-major regulatory element; HS-40; Alpha-globin genes; Genetic polymorphisms; Gene expression. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000900002 |
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