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Haplotype analysis of the Mexican frameshift Cd 11 (-T) and -28 A->C beta-thalassemia alleles
F J Perea1, M A Esparza, A R Villalobos-Arambula
1Divisiones de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Hospital de Pediatría, Guadalajara, México.
Abstract:
The origins of the -28 A->C and frameshift Cd 11 - T(Fs CD 11-T)alleles were investigated by beta-globin cluster haplotype analysis. These alleles were found in a Mexican mestizo family with beta-thalassemia (beta-thal). The -28 A->C mutation was described previously in Kurdish Jews linked to the most common haplotype in the world(+----++),the same haplotype observed in this Mexican family. Therefore, it is not possible to assess a new origin of the -28 A->C mutation in our population. The Fs Cd 11 -T allele, not reported to date in any other populations, was linked to the -++--+-haplotype (sixth in frequency in the world). This haplotype has not been reported in association with any beta-thal mutant, suggesting a Mexican origin for the Cd 11 -T mutation.