title: beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.
abstract: 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.
authors.forename: L
authors.initials: L
authors.lastname: Del Senno
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
authors.forename: R
authors.initials: R
authors.lastname: Barbieri
authors.forename: F
authors.initials: F
authors.lastname: Bernardi
authors.forename: D
authors.initials: D
authors.lastname: Buzzoni
authors.forename: G
authors.initials: G
authors.lastname: Marchetti
authors.forename: C
authors.initials: C
authors.lastname: Perrotta
authors.forename: C
authors.initials: C
authors.lastname: Vullo
authors.forename: Y W
authors.initials: YW
authors.lastname: Kan
authors.forename: F
authors.initials: F
authors.lastname: Conconi
mesh_terms: 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*
chemical_list: D009841:Oligonucleotides; D012313:RNA; D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes