title: [New single point mutation at the initiation codon (ATG-AGG) identified in amplified genomic DNA of a Chinese with beta-thalassaemia].
abstract: A new single nucleotide change at nt 2 of exon 1 of the beta-globin gene was identified in a Chinese female patient with beta-thalassaemia. Dot blot hybridization of the amplified genomic DNA with oligonucleotide probes showed that she carried the four base deletions at the codons 41/42. Direct DNA sequencing on the amplified DNA revealed that she also carried a new mutation (ATG-AGG) at the initiation codon on the other beta-globin gene. This single nucleotide change abolishes a NcoI recognition site and hence it can be directly visualized after gel electrophoresis. Analyses of restriction fragment length polymorphisms showed that she also carried a rightward -3.7 kb (type I) deletion in her alpha-globin genes, and is in fact a alpha beta-thalassaemia genotype.
authors.forename: S
authors.initials: S
authors.lastname: Xie
mesh_terms: D001483:Base Sequence; D002681:China; D002872:Chromosome Deletion; D003062:Codon / Q000235:genetics*; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000235:genetics*; D013789:Thalassemia / Q000145:classification / Q000235:genetics*
chemical_list: D003062:Codon; D012333:RNA, Messenger; D005914:Globins