The Codon 37 (TGG→TAG) β⁰-Thalassemia Mutation Found in a Chinese Family

Abstract

We have found an example of the nonsense β-thalassemia (thal) mutation at codon 37 (TGG→TAG; Trp→Stop) in a Chinese family. The fetus, who inherited both parents’ β-thalassemic alleles, was a compound heterozygote for the codons 41/42 (–TCTT) and codon 37 (TGG→TAG) mutations, and presented with the phenotype of severe β-thal.

Keywords:

• β-Thalassemia (thal)
• Nonsense mutation
• Point mutation