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. 1981 Nov;78(11):7056–7058. doi: 10.1073/pnas.78.11.7056

A common mutant EcoRI restriction endonuclease site in the 5' flanking portion of the human alpha-globin gene.

E Beutler, W Kuhl, C Johnson
PMCID: PMC349193  PMID: 6273907

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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