[New single point mutation at the initiation codon (ATG-AGG) identified in amplified genomic DNA of a Chinese with beta-thalassaemia].

Abstract excerpt

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 D...

Topics

• Base Sequence
• China
• Chromosome Deletion
• Codon
• Female
• Globins
• Humans
• Infant
• Male
• Mutation
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length
• RNA, Messenger
• Thalassemia