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Homogeneity of b0-Thalassemia Codon 17 (A àT) Alleles in Northern Thailand using a Direct DNA Sequencing Method

883

Phanchana Sanguansermsri DVM*,
Dawan Shimbhu PhD*, Rosarin Wongvilairat PhD**,
Rattika Saetung BSc***, Torpong Sanguansermsri MD***

* Department of Biochemistry, Faculty of Medical Science, Naresuan University
** Department of Microbiology and Parasitology, Faculty of Medical Science, Naresuan University
*** Department of Pediatrics, Faculty of Medicine, Chiang Mai University

Abstract


The aim of this study was to characterize b-globin gene micro-haplotype polymorphisms (frameworks) associated with a b-thalassemia mutations common in Northern Thailand using a direct DNA sequencing method. A total of 11 b-thalassemia major patients homozygous for the codon 17 (A®T) mutation admitted to Chiang Mai University Hospital were examined. All 22 alleles were found to contain the Asian framework 3A. The homogeneity of the framework associated with the codon 17 (A®T) mutation indicates a relatively recent origin of the codon 17 (A®T) mutation. Similar studies in other East Asian populations may provide information concerning the origin and the migrational spread of this b-thalassemia mutation.

Keyword : b-thalassemia, Mutation Analysis, Framework, DNA sequencing



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