title: The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation.
abstract: Seventy-four beta-thalassemia genes from 37 unrelated beta-thalassemia-major patients were systematically characterized by using PCR, dot-blot hybridization, and direct sequencing of amplified genomic DNA. We found that six mutations--namely, II-654, 41/42, -28, 17 beta, -29, and 27/28--were prevalent, accounting, respectively, for 45.9%, 28.4%, 10.8%, 10.8%, 1.4%, and 2.7% of studied patients. The 27/28 mutation has at codon 27-28 a cytosine insertion which has never been reported before. These results indicate that four oligo-probes (II-654, 41/42, -28, and 17 beta) allow allele-mutant determination by oligonucleotide analysis in 95.9% of this group of patients, and direct sequencing can be carried out for other samples. These data will facilitate the prenatal diagnosis of this disease by DNA analysis in Taiwan.
authors.affiliation: Department of Clinical Pathology, National Taiwan University, Taipei, Republic of China.
authors.forename: L I
authors.initials: LI
authors.lastname: Lin
authors.forename: K S
authors.initials: KS
authors.lastname: Lin
authors.forename: K H
authors.initials: KH
authors.lastname: Lin
authors.forename: H C
authors.initials: HC
authors.lastname: Chang
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D011296:Prenatal Diagnosis; D016385:TATA Box; D013624:Taiwan; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA