title: A novel amber mutation in a beta zero-thalassaemia gene (beta 37TGG-->TAG), with direct detection by mapping the restriction fragments in amplified genomic DNA.
abstract: A novel amber mutation, a G to A substitution at the second position of codon 37 in the beta-globin gene that changes the tryptophan coding triplet (TGG) to a termination codon (TAG), was found in a Chinese beta-thalassaemia carrier. The mutant gene creates an additional Dde I recognition site and eliminates the Ava II site, so this point mutation can be directly identified by restriction enzyme analysis.
authors.affiliation: Institute of Molecular Biology, First Military Medical University, Guangzhou, P.R. China.
authors.forename: X
authors.initials: X
authors.lastname: Xu
authors.forename: C
authors.initials: C
authors.lastname: Liao
authors.forename: Z
authors.initials: Z
authors.lastname: Liu
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.forename: Z
authors.initials: Z
authors.lastname: Peng
authors.forename: L L
authors.initials: LL
authors.lastname: Qiu
authors.forename: J
authors.initials: J
authors.lastname: Zhang
mesh_terms: D000328:Adult; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005784:Gene Amplification; D005914:Globins / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins