title: Molecular characterization of beta-globin gene mutations in patients with beta-thalassaemia intermedia in south China.
abstract: We have studied the spectrum of mutations producting beta-thalassaemia intermedia in South China. The methods of mutation detection include oligonucleotide analysis, polymerase chain reaction amplification of the beta-globin gene and direct genomic sequencing. The mutations have been identified in 22 beta-globin genes from the patients in 11 unrelated families. Seven different mutations have been identified and the A to G substitution in the TATA box of the beta-globin gene accounts for 42% of these mutant beta-globin genes. Most patients have a beta(+) thalassaemia and one copy of the TATA box mutation. In two patients with beta(0) thalassaemia intermedia the mild phenotype may be explained in one by the presence of the - + - + + 5' beta-globin gene cluster haplotype which contains the Xmn I site -158 nt to the G gamma-globin gene or in the other by the number of alpha-globin genes present.
authors.affiliation: Department of Paediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: J
authors.initials: J
authors.lastname: Kang
authors.forename: V M
authors.initials: VM
authors.lastname: Lam
authors.forename: J W
authors.initials: JW
authors.lastname: Tam
authors.forename: A M
authors.initials: AM
authors.lastname: Li
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D015345:Oligonucleotide Probes; D013789:Thalassemia / Q000235:genetics*
chemical_list: D015345:Oligonucleotide Probes; D005914:Globins