Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/68706
Title: β-Thalassemia and β(A) globin gene haplotypes in Mexican mestizos
Author: Villalobos-Arambula, A.R.
Bustos, R.
Casas-Castaneda, M.
Gutierrez, E.
Perea, F.J.
Thein, S.L.
Ibarra, B.
Issue Date: 1997
Abstract: β-globin haplotypes of 20 β-thalassemia (β-thal) and 87 β(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the β-thal alleles and the frequencies and distribution of the β(A) haplotypes among northwestern Mexican mestizos. Sixteen β-thal chromosomes carried six Mediterranean alleles [five codon 39 C→T; two IVS1:1 G→A; two IVS1:5 G→A: three IVS1:110 G(A; one codon 11 (-T) and three (δβ)°-thal]; the remaining four were linked to three rare alleles (two -28 A→C and one each: -87 C→T and initiation codon ATG→GTG). Among the 87 β(A) chromosomes, 17 different 5' haplotypes with frequencies for 1, 3, 2 and 5 of 39.0%, 17.2%, 9.2% and 6.9%, respectively, were observed. The β-haplotype analysis showed that 13 out of 16 Mediterranean chromosomes could easily be explained by gene migration; however, one codon 39 associated with haplotype 4 (----+ +-), one IVS1:1 with haplotype 1(+----++) and one IVS1:5 G→A, may represent separate mutational events. Analysis of the rare alleles showed that the -28 A→C mutation was associated with the commonest β(A) haplotype in Mexican mestizos, Mediterraneans and the total world population; therefore an independent origin cannot be ruled out. The -87 C→T and initiation codon ATG→GTG were found with β-haplotypes different from the reported ones, suggesting an indigenous origin.
URI: http://hdl.handle.net/20.500.12104/68706
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