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Title: A frameshift at codons 77/78 (-C): A novel β-thalassemia mutation
Author: Perea, F.J.
Magana, M.T.
Esparza, M.A.
Ibarra, B.
Issue Date: 2004
Abstract: We identified and characterized a novel β-thalassemia (β-thal) mutation due to a deletion of cytosine at codons 77/78 (-C) [CAC(His) CA- or CTG(Leu)→-TG] found in a heterozygous state in four members of a Mexican family. The β haplotype analysis performed on the family revealed that the frameshift at codons 77/78 (-C) mutation in this family is associated with haplotype V [- + - - - + ] and framework 2. Ten β-thal alleles with a cytosine deletion are described at the Globin Gene Server, two of which are very near codon 77. The molecular pathology of β-thal in the Mexican population has been shown to be heterogeneous, because some Mediterranean, Asian, private and rare alleles have been observed, a similar fact as has been observed in populations with a low frequency of β-thal.
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