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.
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.
Xu
X
X
Institute of Molecular Biology, First Military Medical University, Guangzhou, P.R. China.
Liao
C
C
Liu
Z
Z
Li
J
J
Peng
Z
Z
Qiu
L L
LL
Zhang
J
J
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*
D005914:Globins