ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary We have identified different β-thalassemia mutations in 93 members of 34 families of Czech or Slovakian descent using gene amplification, hybridization with specific 32P-labeled oligonucleotide probes, sequencing of amplified DNA, and gene mapping. The G→A mutation at IVS-I-1 was found in 18 families; other Mediterranean mutations were IVS-II-1 (G→A), IVS-II-745 (C→G), IVS-I-110 (G→A), and codon 39 (C→T); these were present in 9 additional families. The G→T mutation at codon 121, known to cause Heinzbody β-thalassemia, was present in 3 families, and the frameshift at codons 82/83 (-G), first described in the Azerbaijanian population, in 2 families. A newly discovered allele was a frameshift at codons 38/39 (-C). One β-thalassemia allele was incompletely characterized. We observed in 2 families a T→C mutation at position +96 UTR (untranslated region) relative to the termination codon; this mutation likely is a rare polymorphism, α-Thalassemia was rare; only one person carried the -α3.7 heterozygosity, and one other had a yet to be identified α-thalassemia-1, while seven had the αααanti 3.7 triplication.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00215673
Permalink
