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Type: Artigo de periódico
Title: Haplotype Analysis And (a)γ Gene Polymorphism Associated With The Brazilian Type Of Hereditary Persistence Of Fetal Hemoglobin
Author: Bordin S.
Martins J.T.
Goncalves M.S.
Melo M.B.
Saad S.T.O.
Costa F.F.
Abstract: We have identified three unrelated individuals and three members of a family with the non-deletion form of (A)γ-hereditary persistence of fetal hemoglobin (HPFH). Molecular analysis showed that each individual is a heterozygote for a previously described -195 (A)γ (C→G) mutation. The β- globin gene cluster was studied using the polymerase chain reaction and related techniques. Haplotyping using nine restriction sites identified two closely related chromosomes with the -195 (A)γ mutation, differing only in a single site 3' to the β-globin gene. Further analysis of β-globin framework indicated that the HPFH allele segregates with haplotype V, according to Orkin's classification. The second haplotype probably originated by a point mutation or DNA rearrangement of a pre-existing -195(A)γ chromosome. We also determined the sequences from -622 to +55 bp upstream to the (A)γ gene and part of the (A)γ IVS-2. We found four polymorphisms associated to the - 195(A)γ promoter region. All -195 (A)γ chromosomes had a G at positions - 588 and +25 relative to the (A)γ gene. One individual was also homozygous for polymorphisms at -398 (G→A), and another at -369 (C→G). Cloning and sequencing of the polymorphic patterns of the 3' region of (A)γ IVS-2 showed that the mutated allele is linked to β-globin chromo- some B. Some correlations between chromosome characteristics and (A)γ point mutations were also observed.
Rights: fechado
Identifier DOI: 10.1002/(SICI)1096-8652(199805)58:1<49::AID-AJH9>3.0.CO;2-0
Date Issue: 1998
Appears in Collections:Unicamp - Artigos e Outros Documentos

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