Korean J Clin Pathol.
2001 Apr;21(2):160-163.
A Novel-Thalassemic Mutation, Codons 89/90-TG, Found in Two Korean Families
- Affiliations
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- 1Department of Clinical Pathology, Seoul National University College of Medicine, Seoul, Korea.
- 2Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
- 3Department of Clinical Pathology, Inha University College of Medicine, Incheon, Korea.
- 4Department of Pediatrics, Inha University College of Medicine, Incheon, Korea.
Abstract
- We describe a novel-thalassemia mutation, the deletion of TG at codons 89/90 of the globin gene, found in two unrelated Korean families. Their hematological findings varied, but some patients showed prominent anemia. This mutation would introduce a premature stop codon (TGA) at codon 93. But a RNA study revealed that the / ratio was within normal range, and the amount of the mutant -globin RNA was comparable to that of normal-globin RNA. These data suggests this novel mutation as a dominant type. The haplotype and frameworks linked to the mutation were different between the two families.
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