Gilman, John G. and Manca, Laura and Frogheri, Maria Laura and Pistidda, Paola Matilde and Guiso, Luciana and Longinotti, Maurizio Roberto and Masala, Bruno Lucio (1994) Mild β+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis. American Journal of Hematology, Vol. 45 (3), p. 265-267. eISSN 1096-8652. Article.
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The β0-thalassemia codon 39 nonsense mutation predominant in Sardinia is severe, and homozygotes are transfusion dependent. Two-thirds of β0 39 alleles are linked to AγT (haplotype II). Onefourth are linked to AγI (haplotypes I and IX), as is the mild β+-thalassemia -87 C→G mutation (haplotype VIII). β+/β0-thalassemia VIII/II compound heterozygotes have significantly higher AγI:AγT (23:7) than β0-thalassemia I/II (24:20) or IX/II (16:17) cases. This suggests that the β+-87 mutation is associated with elevated γ expression in cis, which may contribute to the lack of transfusion-dependence in β+/β0 cases.
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