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We report the characterization of seven different beta-thalassemia mutations in 131 newly diagnosed Portuguese beta-thalassemia 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 beta-thalassemia alleles in this population. The geographical distribution is uneven; the TGG-->TGA mutation at codon 15 was primarily observed in the coastal region north of Lisbon, while the IVS-I-6 (T-->C) mutation was confined to the central part of the country.
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
January 1988,
Human genetics,
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
January 1998,
Hemoglobin,
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
January 2001,
Journal of biomedicine & biotechnology,
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
January 1995,
Hemoglobin,
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
August 1990,
British journal of haematology,
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
June 2005,
Clinical biochemistry,
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
November 2000,
Hemoglobin,
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
May 1990,
British journal of haematology,
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
January 2006,
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego,
G P Tamagnini, and
P Gonçalves, and
M L Ribeiro, and
J Kaeda, and
F Kutlar, and
E Baysal, and
T H Huisman
August 1999,
Hemoglobin,
