title: The spectrum of beta-thalassemia mutations in southern Thailand.
abstract: Beta-thalassemia mutations in 282 alleles of 253 unrelated individuals originating from various provinces in the south of Thailand were characterized by dot blot hybridization, specific PCR-amplification and direct DNA sequencing. It was possible to characterize the mutations in 274 (97.2%) of alleles studied. Twelve different point mutations and two different large deletions of the beta-globin gene were identified. Seven common mutations, namely 4 bp deletion at codons 41/42. IVS1 position 5 (G-C), codon 19 (AAC-AGC), codon 17 (AAG-TAG), IVS1 position 1 (G-T), position -28 (A-G) and 3.5 kb deletion, accounted for about 91.5%. The mutations at mRNA cap site + 1 (A-C) and IVS1 position 1 (G-A), previously undescribed in Thailand, were found in 1 and 2 individuals, respectively. A novel mutation of 105 bp deletion at the 5' end of beta-globin gene was detected in a family originating from this area. The knowledge from this study should be useful for planning of genetic counseling and prenatal diagnosis programs for patients with beta-thalassemia in the south of Thailand.
authors.affiliation: Department of Pathology, Faculty of Medicine, Prince of Songkhla University, Songkhla, Thailand.
authors.forename: C
authors.initials: C
authors.lastname: Nopparatana
authors.forename: V
authors.initials: V
authors.lastname: Panich
authors.forename: V
authors.initials: V
authors.lastname: Saechan
authors.forename: V
authors.initials: V
authors.lastname: Sriroongrueng
authors.forename: C
authors.initials: C
authors.lastname: Nopparatana
authors.forename: J
authors.initials: J
authors.lastname: Rungjeadpha
authors.forename: M
authors.initials: M
authors.lastname: Pornpatkul
authors.forename: V
authors.initials: V
authors.lastname: Laosombat
authors.forename: Y
authors.initials: Y
authors.lastname: Fukumaki
mesh_terms: D000483:Alleles; D001483:Base Sequence; D003062:Codon; D017931:DNA Primers; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India; D007214:Indonesia; D008296:Malaysia; D008969:Molecular Sequence Data; D009154:Mutation; D002052:Myanmar; D015345:Oligonucleotide Probes; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D013785:Thailand; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D017931:DNA Primers; D015345:Oligonucleotide Probes; D005914:Globins