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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|
|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.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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