文章基本信息

标题：A common mutant EcoRI restriction endonuclease site in the 5' flanking portion of the human alpha-globin gene
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作者：E Beutler ; W Kuhl ; C Johnson 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：1981
卷号：78
期号：11
页码：7056-7058
DOI：10.1073/pnas.78.11.7056
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：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.