title: Restriction endonuclease mapping of globin genes in beta-thalassaemia.
abstract: We have used the restriction endonuclease mapping technique to analyse the globin genes in local cases of beta-thalassaemia major. No gross deletions or rearrangements of the beta-globin gene locus were detected. In one individual the point mutation within the beta-globin gene which gives rise to a beta(0)-thalassaemia allele was detected by use of a restriction enzyme which cuts the gene at this site. Analysis of restriction fragment length polymorphisms at the beta-globin locus showed that antenatal diagnosis of the disorder could be accomplished in an indigenous family with thalassaemia. The application of the gene-mapping technique to the diagnosis of sickle cell anaemia and alpha-thalassaemia is also discussed.
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis; D004262:DNA Restriction Enzymes / Q000235:genetics*; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005914:Globins; D004262:DNA Restriction Enzymes