Abstract
We report the characterization of seven different βthalassemia mutations in 131 newly diagnosed Portuguese βthalassemia heterozygotes. Methodology included the detection of abnormal fragments by agar gel electrophoresis of PCR-amplified DNA fragments after digestion with specific restriction endonucleases, as well as hybridization with synthetic nucleotide probes and sequencing of amplified DNA. Four mutations, including the newly discovered TGG→TGA change at codon 15, occurred in excess of 10% and accounted for some 90% of the βthalassemia alleles in this population. The geographical distribution is uneven; the TGA→TGA mutation at codon 15 was primarily observed in the coastal region north of Lisbon, while the IVS-1-6 (T→C) mutation was confined to the central part of the country.
Original language | English (US) |
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Pages (from-to) | 31-40 |
Number of pages | 10 |
Journal | Hemoglobin |
Volume | 17 |
Issue number | 1 |
DOIs | |
State | Published - 1993 |
Externally published | Yes |
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical