beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.
Six beta(+)-thalassaemic patients from the Po river delta region have been studied. Using synthetic oligonucleotides as specific hybridisation probes, the beta(+) IVS I mutation (G----A at position 108) was demonstrated. This lesion and the enzyme polymorphism pattern in the subjects examined are the same as have been described for other Mediterranean beta(+)-thalassaemias. Antenatal diagnosis through DNA analysis of beta(+)-thalassaemia is therefore possible. The production of beta globin in a beta(+), homozygote and in a beta (+), beta(0) 39 (nonsense mutation at codon 39) double heterozygote is approximately 20% and 10% respectively of total non-alpha globin synthesis. Despite some overlapping of the results, similar beta globin synthesis levels have been obtained in 43 beta(+)-thalassaemia patients. This suggests that in the Po river delta region the most common thalassaemic genes are beta(0) 39 and beta(+) IVS I.
Del Senno
L
L
Pirastu
M
M
Barbieri
R
R
Bernardi
F
F
Buzzoni
D
D
Marchetti
G
G
Perrotta
C
C
Vullo
C
C
Kan
Y W
YW
Conconi
F
F
D001345:Autoradiography; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005787:Gene Frequency; D005796:Genes; D005838:Genotype; D005914:Globins / Q000096:biosynthesis* / Q000235:genetics; D006801:Humans; D007558:Italy; D009154:Mutation; D009693:Nucleic Acid Hybridization; D009841:Oligonucleotides; D011110:Polymorphism, Genetic; D012313:RNA / Q000235:genetics; D013789:Thalassemia / Q000453:epidemiology / Q000235:genetics*
D009841:Oligonucleotides; D012313:RNA; D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes