title: Identification of beta-globin gene mutations in Thailand using an automated fluorescence-based DNA sequencer.
abstract: Fluorescence-based DNA sequence analysis was developed for identification of beta-globin gene mutations in the Thai population. The beta-globin gene was directly sequenced in two runs and the sequencing electropherogram allowed unambiguous detection of nucleotide substitutions, frameshifts, and small insertions/deletions in heterozygote and homozygote. The method was validated and successfully applied in routine analysis of 416 individuals with beta-thalassemia disease, beta-thalassemia/hemoglobin (Hb) E and Hb variants. Twenty-five different beta-globin gene mutations were identified. Two Hb variants, Hb Tacoma [codon 30 (G-T)] and Hb Tende [codon 124 (C-T)], were also identified for the first time in a Thai population. Automated fluorescence-based DNA sequence analysis provides a rapid and reliable method for identification of common, rare and unknown beta-globin gene mutations, which is essential for prevention and control of thalassemia and hemoglobinopathy in Thailand.
authors.affiliation: Department of Medical Sciences, Clinical research center, National Institute of Health, NIH, Tiwanon Road, Nonthaburi 10110, Thailand. sangkitporn@yahoo.com
authors.forename: S K
authors.initials: SK
authors.lastname: Sangkitporn
authors.forename: L
authors.initials: L
authors.lastname: Eksiri
authors.forename: A
authors.initials: A
authors.lastname: Sangnoi
authors.forename: S
authors.initials: S
authors.lastname: Duangruang
authors.forename: A
authors.initials: A
authors.lastname: Dumbua
authors.forename: K
authors.initials: K
authors.lastname: Rattanakittisophon
authors.forename: S
authors.initials: S
authors.lastname: Sangkitporn
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D005453:Fluorescence; D006455:Hemoglobins, Abnormal; D006801:Humans; D013785:Thailand; D013789:Thalassemia / Q000235:genetics; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C048112:hemoglobin Tacoma