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Nucleic Acids Research, 1981, Vol. 9, No. 15 3707-3717
© 1981


MOLECULAR BIOLOGY

Two types of triplicated a-globin loci in humans

Luan Eng Lie-Injo*, Alejandro R. Herrera* and Yuet Wai Kan**

*Department of Epidemiology and International Health, University of California, San Francisco, CA 94143, USA **Howard Hughes Medical Institute and Department of Medicine, University of California San Francisco, CA 94143, USA

Received April 28, 1981. DNA from healthy Malaysian newborns was studied on gene maps after digestion with different restriction endonucleases. Of 65 newborns, two were found to be carriers of two different variants of triplicated {alpha}-globin loci. In variant no. 1, found in a Malay, the three {alpha}-globin genes are in an elongated DNA fragment on digestion with Eco RI and BamHI. The third {alpha}-globin gene was found in an additional 3.7-kb fragment on digestion with Hpa I, Bgl II and Hind III. In variant no. 2, a newtype of triplicated {alpha}-globin loci, found in a Chinese, the three {alpha}-globin genes reside in an elongated DNA fragment longer than that of variant no. 1on digestion with Eco RI and Bam HI. The third {alpha}-globin gene was found inan additional 4.2-kb fragment on digestion with Hpa I and Hind III. Digestion of this variant DNA with Bgl II produced an abnormal 16.7-kb fragment in addition to the normal 7.0-kb Bgl-II fragment. The locations of the restriction sites in the two types of triplicated {alpha}-globin lociare compatible with a mechanism of unequal crossing over following two different modes of misalignment.


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