Alpha-globin Genes: Thalassemic And Structural Alterations In A Brazilian Population.

dc.creatorWenning, M R
dc.creatorKimura, E M
dc.creatorCosta, F F
dc.creatorSaad, S T
dc.creatorGervásio, S
dc.creatorde Jorge, S B
dc.creatorBorges, E
dc.creatorSilva, N M
dc.creatorSonati, M F
dc.date2000-Sep
dc.date2015-11-27T12:22:39Z
dc.date2015-11-27T12:22:39Z
dc.date.accessioned2018-03-29T00:54:19Z
dc.date.available2018-03-29T00:54:19Z
dc.identifierBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]. v. 33, n. 9, p. 1041-5, 2000-Sep.
dc.identifier0100-879X
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/10973135
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/194575
dc.identifier10973135
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1294808
dc.descriptionSeven 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, alphaalphaNcoI, 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 three showed interaction of the -alpha3.7 deletion with an unusual, unidentified form of non-deletional alpha-thalassemia [-alpha3.7/(alphaalpha)T]. Among the 27 patients with structural alterations, 15 (of Italian descent) had Hb Hasharon (alpha47Asp-->His) associated with the -alpha3.7 deletion, 4 (of Italian descent) were heterozygous for Hb J-Rovigo (alpha53Ala-->Asp), 4 (3 Blacks and 1 Caucasian) were heterozygous for Hb Stanleyville-II (alpha78Asn-->Lys) associated with the alpha+-thalassemia, 1 (Black) was heterozygous for Hb G-Pest (alpha74Asp-->Asn), 1 (Caucasian) was heterozygous for Hb Kurosaki (alpha7Lys-->Glu), 1 (Caucasian) was heterozygous for Hb Westmead (alpha122His-->Gln), and 1 (Caucasian) was the carrier of a novel silent variant (Hb Campinas, alpha26Ala-->Val). Most of the mutations found reflected the Mediterranean and African origins of the population. Hbs G-Pest and Kurosaki, very rare, and Hb Westmead, common in southern China, were initially described in individuals of ethnic origin differing from those of the carriers reported in the present study and are the first cases to be reported in the Brazilian population.
dc.description33
dc.description1041-5
dc.languageeng
dc.relationBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]
dc.relationBraz. J. Med. Biol. Res.
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAfrican Continental Ancestry Group
dc.subjectBrazil
dc.subjectChild
dc.subjectEuropean Continental Ancestry Group
dc.subjectGenetic Testing
dc.subjectGlobins
dc.subjectHumans
dc.subjectMutation
dc.subjectPolymerase Chain Reaction
dc.subjectAlpha-thalassemia
dc.titleAlpha-globin Genes: Thalassemic And Structural Alterations In A Brazilian Population.
dc.typeArtículos de revistas


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