Open AccessA common mutant EcoRI restriction endonuclease site in the 5' flanking portion of the human alpha-globin gene.
Author(s) -
Ernest Beutler,
W Kühl,
Cage S. Johnson
Publication year - 1981
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.78.11.7056
Subject(s) - ecori , bamhi , restriction enzyme , genetics , biology , restriction site , globin , microbiology and biotechnology , restriction map , mutant , gene , restriction fragment , nucleic acid sequence
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.