title: DNA polymorphism haplotype analysis of beta-thalassemia genes in Taiwan.
abstract: Twenty unrelated families of homozygous beta-thalassemia were collected for restriction polymorphism haplotype study of the beta-thalassemia (beta T) genes. DNA was extracted from WBC of the family members. With Southern blotting and DNA hybridization, restriction fragment length polymorphisms (RFLPs) were studied at 7 sites within the beta-globin gene cluster, including 5' epsilon-HincII, G gamma-HindIII, A gamma-HindIII, psi beta-HincII,3' psi beta-HincII, beta-AvaII,3' beta-BamHI. From RFLPs of the family members, restriction polymorphism haplotypes of the 40 beta T chromosomes and the 40 normal beta-globin gene (beta A)-bearing chromosomes were constructed. In beta T chromosomes. 26 (65%) belonged to haplotype I (+----++), 12 (30%) to haplotype II (+-----+), 1 (2.5%) to haplotype III (-++-+-+) and 1 (2.5%) to haplotype IV (++---++) which has not been reported in Chinese before. In beta A chromosomes, 12 different haplotypes were found. Seven (17.5%) belonged to haplotype I, 13 (32.5%) to haplotype II, and 6 (15%) to haplotype V (+----+-). The implications of RFLP and haplotyping of beta T genes in terms of molecular defects and prenatal diagnosis are discussed.
authors.forename: T M
authors.initials: TM
authors.lastname: Ko
authors.forename: P M
authors.initials: PM
authors.lastname: Hsu
authors.forename: F J
authors.initials: FJ
authors.lastname: Hsieh
authors.forename: K H
authors.initials: KH
authors.lastname: Lin
authors.forename: S C
authors.initials: SC
authors.lastname: Lee
authors.forename: T Y
authors.initials: TY
authors.lastname: Lee
mesh_terms: D044466:Asian People; D004247:DNA / Q000032:analysis; D006239:Haplotypes; D006801:Humans; D009693:Nucleic Acid Hybridization; D012150:Polymorphism, Restriction Fragment Length; D013624:Taiwan; D013789:Thalassemia / Q000235:genetics*
chemical_list: D004247:DNA