Molecular characterization of β-thalassemia in Taiwan and the identification of two new mutations

T. M. Ko, L. H. Tseng, P. M. Hsu, I. J. Guu, Y. W. Lin, S. F. Li, T. Y. Lee, S. M. Chuang

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Polymerase chain reaction-based techniques were used to study the molecular defects of 480 unrelated β-thalassemia heterozygotes in Taiwan. Analysis of artificially created restriction sites and gap-polymerase chain reaction were performed to detect four common mutations, i.e. IVS-II-654 (C→T), codons 41/42 (-TCTT), codon 17 (A→T), -28 (A→G), and a deletional form of δβ-thalassemia in the Chinese population. In cases with negative or ambiguous results with the aforementioned methods, direct DNA cycle sequencing using either S35-dATP or a fluorescent dye terminator, was carried out to determine the defects. A total of 14 different mutations have been found in this series. The IVS-II-654 mutation was the most common (39.6%), followed by the codons 41/42 mutation (37.9%). The four common genotypes accounted for 92.3% of defects. Two new mutations were detected: codon 31 (-C) and codons 40/41 (+T). Both defects resulted in a frameshift and a premature terminator, the former at codon 60, the latter at codon 43. Although we have studied our cases extensively, the molecular defects in seven alleles are still unknown.

Original languageEnglish (US)
Pages (from-to)131-142
Number of pages12
Issue number2
StatePublished - 1997
Externally publishedYes

ASJC Scopus subject areas

  • Hematology
  • Biochemistry


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