Molecular characterization of beta-thalassemia in Hungary.

Abstract

We have identified seven different beta-thalassemia mutations and one delta beta-thalassemia determinant (the Sicilian type) in 32 members of 17 Hungarian families. The most common mutation is the IVS-I-1 (G-->A) change; its high frequency is comparable to that observed in neighboring Czechoslovakia. Additional mutations are of Mediterranean origin. One rare mutation (initiation codon ATG-->GTG) was identified as an independent mutation because of the absence of known polymorphisms in the beta-globin gene. One new frameshift at codon 51 (-C) was observed in a single individual; hematological data were as expected for a beta zero-thalassemia heterozygosity.

• Authors: B Ringelhann, J G Szelenyi, M Horanyi, M Svobodova, V Divoky, K Indrak, S Hollân, A Marosi, M Laub, T H Huisman
• Journal: Human genetics (Hum Genet) Vol. 92 Issue 4 Pg. 385-7 (Oct 1993) ISSN: 0340-6717 [Print] Germany
• PMID: 8225319 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Codon
• Oligonucleotide Probes
• Globins
• DNA

Topics

• Amino Acid Sequence
• Base Sequence
• Codon
• DNA (analysis)
• Frameshift Mutation (genetics)
• Globins (genetics)
• Humans
• Hungary (epidemiology)
• Molecular Biology
• Molecular Sequence Data
• Oligonucleotide Probes
• beta-Thalassemia (epidemiology, genetics)