title: Analysis of the Hb M Milwaukee mutation at the DNA level.
abstract: Restriction endonuclease mapping of cellular DNA with the enzyme Sst I has been used to detect the haemoglobin (Hb) Milwaukee mutation directly. Instead of a normal 15.5 kilobase pairs (kb) fragment which contains the normal beta-globin structural genes, in heterozygous Hb M Milwaukee DNA two additional fragments of 9.0 kb and 6.5 kb were obtained that are diagnostic for this anomaly. The position of Sst I sites within the beta-globin gene region could be established.
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D004587:Electrophoresis, Agar Gel; D005914:Globins / Q000235:genetics; D006449:Hemoglobin M / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; C027543:hemoglobin M Milwaukee; D006449:Hemoglobin M; D004262:DNA Restriction Enzymes; C024408:endodeoxyribonuclease SacI; D015252:Deoxyribonucleases, Type II Site-Specific