title: Beta-thalassemia in China: a systematic molecular characterization of beta-thalassemia mutations.
abstract: In order to initiate a program of prenatal diagnosis for the prevention of beta-thalassemia in China, we have begun systematic studies of the beta-thalassemia mutations among the Chinese. DNA polymorphisms in the beta-globin gene cluster were examined in 46 beta-thalassemia chromosomes. Six different haplotypes were observed. One beta-thalassemia gene associated with a new haplotype was cloned and sequenced. The mutation was a single base substitution (A----G) at position -29 within the highly conserved proximal promoter element (the "TATA" box). This mutation was not observed previously in the Chinese. The beta-thalassemia genes were further screened with oligonucleotide probes specific for all known mutations in the Chinese. Five mutations were identified and accounted for 35 beta-thalassemia alleles.
authors.affiliation: Department of Medical Genetics, Peking Union Medical College, Beijing, P.R. China.
authors.forename: S
authors.initials: S
authors.lastname: Huang
authors.forename: P G
authors.initials: PG
authors.lastname: Waber
authors.forename: C E
authors.initials: CE
authors.lastname: Dowling
authors.forename: C
authors.initials: C
authors.lastname: Wong
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: R L
authors.initials: RL
authors.lastname: Cai
authors.forename: M Q
authors.initials: MQ
authors.lastname: Wang
authors.forename: W H
authors.initials: WH
authors.lastname: Lo
authors.forename: H H
authors.initials: HH
authors.lastname: Kazazian
mesh_terms: D002648:Child; D002681:China; D003001:Cloning, Molecular; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D015345:Oligonucleotide Probes; D013789:Thalassemia / Q000235:genetics*
chemical_list: D015345:Oligonucleotide Probes