title: Beta thalassemic mutations recognized by DNA mapping with Hph I and Rsa I in the Algerian population.
abstract: By using Hph I and Rsa I restriction enzymes and beta globin large intervening sequence as a probe, we have investigated the DNA of 20 Algerian patients with beta(0) or beta(+) thalassemia. In any of them, we detected the nucleotide change which is known to generate an additional Hph I site at the 5' splice junction of the beta globin large intervening sequence and which yields a beta(0) phenotype. In one of them, we detected the nucleotide change which is known to generate an additional Rsa I site within the beta globin large intervening sequence and which is supposed to yield a beta(+) phenotype. These results indicate that these two types of mutation are relatively rare in the Algerian population.
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000032:analysis*; D004262:DNA Restriction Enzymes / Q000378:metabolism*; D015252:Deoxyribonucleases, Type II Site-Specific; D005914:Globins / Q000235:genetics; D006801:Humans; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C024412:GGTGA-specific type II deoxyribonucleases; C040158:GTAC-specific type II deoxyribonucleases