title: The spectrum of beta-thalassemia mutations in northern and northeastern Thailand.
abstract: A total of 123 beta-thalassemia genes from northern (n = 113) and northeastern (n = 10) Thailand were examined. Using five oligonucleotide probes, the mutation in 108 genes (88%) was identified: 50 nonsense 17, 49 frameshift 41-42, 4-28(A----G), 2 IV1 nt5(G----C), 2IVS2 nt654, and 1 deletion removing the entire beta-globin gene. The nonsense 17 mutation (n = 39) was linked to a single haplotype, whereas the frameshift 41-42 mutation occurred with several haplotypes. The results of the present study indicate that prenatal diagnosis of clinically important beta-thalassemia syndromes using a limited set of oligonucleotides is feasible in approximately 80% of affected families in northern Thailand and most of the families with beta-thalassemia-Hb E disease in northeastern Thailand.
authors.affiliation: Abteilung für Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany.
authors.forename: M
authors.initials: M
authors.lastname: Laig
authors.forename: T
authors.initials: T
authors.lastname: Sanguansermsri
authors.forename: S
authors.initials: S
authors.lastname: Wiangnon
authors.forename: J
authors.initials: J
authors.lastname: Hundrieser
authors.forename: M
authors.initials: M
authors.lastname: Pape
authors.forename: G
authors.initials: G
authors.lastname: Flatz
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D003710:Demography; D005796:Genes; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D013785:Thailand; D013789:Thalassemia / Q000235:genetics*
chemical_list: D015345:Oligonucleotide Probes; D005914:Globins