Molecular characterization of beta-thalassemia in Hungary.
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.
Ringelhann
B
B
Trencseni ut 39/b, Budapest, Hungary.
Szelenyi
J G
JG
Horanyi
M
M
Svobodova
M
M
Divoky
V
V
Indrak
K
K
Hollân
S
S
Marosi
A
A
Laub
M
M
Huisman
T H
TH
D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000032:analysis; D016368:Frameshift Mutation / Q000235:genetics; D005914:Globins / Q000235:genetics; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008967:Molecular Biology; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D003062:Codon; D015345:Oligonucleotide Probes; D005914:Globins; D004247:DNA