title: A wider molecular spectrum of beta-thalassaemia in Myanmar.
abstract: Two hundred and nine beta-thalassaemia (beta-Thal) alleles of 158 unrelated Myanmar patients (107 HbE-beta-Thal; 51 beta-Thal major) were analysed for beta-globin gene mutations. Amplification refractory mutation system (ARMS) characterized six beta-thal mutations known to Myanmar [betaIVSI-1(G-->T), codon 41/42(-TCTT), betaIVSI-5(G-->C), codon 17(A-->T), betaIVS II-654(C-->T), and -28 Cap (A-->G)] in 166/209 (79.4%) alleles. DNA sequencing of 24 alleles from 43 ARMS-negative samples (20.6%) identified an additional 12 new mutations, to produce a total of 18 different mutations. Nineteen alleles (9.1%) remained for further characterization. The molecular spectrum of Myanmar beta-Thal is wider and more heterogeneous than previously reported.
authors.affiliation: Pathology Research Division, Department of Medical Research (Lower Myanmar), 5-Ziwaka Road, Dagon P.O. 11191, Yangon, Union of Myanmar. dmrlowerm@mptmail.net.mm
authors.forename: Ne
authors.initials: N
authors.lastname: Win
authors.forename: Teruo
authors.initials: T
authors.lastname: Harano
authors.forename: Keiko
authors.initials: K
authors.lastname: Harano
authors.forename: Thein-Thein
authors.initials: TT
authors.lastname: Myint
authors.forename: Rai
authors.initials: R
authors.lastname: Mra
authors.forename: Shigeru
authors.initials: S
authors.lastname: Okada
authors.forename: Kunio
authors.initials: K
authors.lastname: Shimono
authors.forename: Aye-Aye
authors.initials: AA
authors.lastname: Myint
mesh_terms: D000293:Adolescent; D000483:Alleles; D001208:Asia / Q000208:ethnology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D002052:Myanmar; D017086:beta-Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D005914:Globins