title: Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family.
abstract: Chromosomal DNA from three individuals with familial hemoglobin M (Hb M) Milwaukee was studied by restriction endonuclease analysis. The segregation of the mutant beta-globin gene could be followed through three generations by direct Sst I analysis at the gene level. Various restriction endonucleases were used to confirm the positions of Sst I sites in the delta-beta A- and delta-beta Mi-globin gene regions.
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes; D005260:Female; D005796:Genes; D005799:Genes, Dominant; D005914:Globins / Q000235:genetics*; D006449:Hemoglobin M / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; C027543:hemoglobin M Milwaukee; D006449:Hemoglobin M; D004262:DNA Restriction Enzymes