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Article: Molecular Demonstration of SLC4A1 Gene Deletion in Two Mexican Patients with Southeast Asian Ovalocytosis
- Article from:
- Human Biology
- Article date:
- June 1, 2005
- Author:
CopyrightCopyright Wayne State University Press Jun 2005. Provided by ProQuest LLC. (Hide copyright information)
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Abstract
We describe the finding of two Mexican patients with a specific 27-bp deletion in the solute carrier family 4 gene (SLC4A1Δ27) (also known as the band 3 gene found on chromosome 17q21-q22), characteristic of Southeast Asian ovalocytosis (SAO). The patients were asymptomatic, and the initial diagnosis was made by microscopic observation of the presence of typical stomatocytic ovalocytes. The gene deletion was confirmed by PCR and DNA sequencing. Both patients were heterozygous for the deletion. One patient is from Tabasco state, in southeastern Mexico, a malaria-endemic zone. The other patient is from Mexico City, which is not a malaria-endemic area. Their families have no ...