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Title: Diversity of the 5? ?-globin haplotype of four ?-thalassemia mutations in the Mexican population
Author: Morales, K.R.
Magana, M.T.
Ibarra, B.
Perea, F.J.
Issue Date: 2009
Abstract: ?-Globin haplotypes have been used to investigate the origin and spread of ?-globin mutations such as Hb S [?6(A3)Glu?Val, GAG>GTG], Hb E [?26(B8)Glu?Lys, GAG>AAG], and ?-thalassemia (?-thal). Molecular analyses revealed the presence of 17 ?-thal mutations in the Mexican population; the most frequent of these are the nonsense codon 39 (C>T), IVS-I-1 (G>A), IVS-I-110 (G>A), and -28 (A>C). To improve our knowledge about their origin, we analyzed the 5? haplotypes by restriction fragment length polymorphism. The codon 39 mutation (n = 17) was observed with five 5? haplotypes: 1 (59%), 2 (23%), and 4, 6, and 9 (6% each). The IVS-I-1 mutation (n = 15) was found with five 5? haplotypes: 1 (73.6%), 2, 3, 5, and 11 (6.6% each), whereas the IVS-I-110 (n = 9) and -28 mutations (n = 1) were only associated with haplotype 1. In the population studied, the codon 39 and IVS-I-1 mutations show a multicentric origin, whereas the IVS-I-110 and -28 mutations have an apparent single origin. Further investigation is required for the analysis of the polymorphisms surrounding the ?-globin gene. Copyright � Informa Healthcare USA, Inc.
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