A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.
A new polymorphism in the beta-globin is described, using the restriction enzyme Asu I. A radioactive probe specifically representing the large intervening sequence (IVS 2) of the beta-globin gene has been used to detect this polymorphism. Normally, a 0.8-kilobase fragment containing beta-IVS 2 is generated by Asu I; however, a 1.0-kilobase fragment is seen in association with 18% of beta A-genes, and 38% of beta-thalassemia genes in an Israeli population studied. By contrast, the Asu I polymorphism has rarely been seen in blacks examined to date. An additional Asu I change is seen the the delta-globin gene with a delta-IVS probe. The beta-Asu I polymorphism is shown to be useful in the antenatal diagnosis of beta-thalassemia.
D001483:Base Sequence; D004262:DNA Restriction Enzymes / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D005796:Genes; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H; D006801:Humans; D010375:Pedigree; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
D005914:Globins; D006447:Hemoglobin H; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C032262:GGNCC-specific type II deoxyribonucleases