Direct Visualization of Abnormal Restriction Fragment in Amplified Genomic DNA

A new frameshift mutation due to an insertion of G between codon 14/1 5 of the $-globin gene was found in two unrelated Chinese patients with Cooley’s anemia. The first patient (W.S.) was homozygous for haplotype 5 (Chi-nese) and carried a codon 41 /42 (four base pair deletion) mutant, while the second patient (C.K.) was homozygous for haplotype 2 (Chinese). and also had a codon 1 7 (A- ‘ T) nonsense mutation. Molecular cloning and Ml 3 sequencing of the j9 gene in patient W.S. revealed that the new mutant I3 THALASSEMIA IS A heterogenous and widespread inherited disorder of fl-globin synthesis. ’ At least 40 different mutations have been described to date, and each ethnic group carries its own set of common mutants.2 The majority of j-thalassemia is due to a minor deletion, inser-tion, or point mutation of nucleotide that is too subtle to b