title: A common mutant EcoRI restriction endonuclease site in the 5' flanking portion of the human alpha-globin gene.
abstract: A mutant EcoRI endonuclease restriction site has been identified in 3 of 37 Black subjects and in 2 sibs of one of these persons. This mutation was not encountered in 13 Whites. It is located approximately 6 kilobases "inside" the normal site in the 5' flanking sequence of the alpha-globin chain complex. The shortened alpha-globin gene-bearing segment produced in the EcoRI digest produces a restriction map similar to that observed for the common alpha-globin gene deletion observed in the Black population. However, the restriction map with BamHI is normal, confirming that all four alpha loci are present.
mesh_terms: D001483:Base Sequence; D044383:Black People; D004262:DNA Restriction Enzymes / Q000378:metabolism*; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D044465:White People
chemical_list: D005914:Globins; D004262:DNA Restriction Enzymes