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Nucleic Acids Research, 1982, Vol. 10, No. 24 8025-8029
© 1982

MOLECULAR BIOLOGY

Duplication followed by deletion accounts for the structure of an Indian deletion ßo-thalassemia gene

Richard A. Spritz* and Stuart H. Orkin+

+Dept. Pediatrics, Harvard Medical School and Div. Hematology and Oncology, The Children's Hospital Medical Center and the Sidney Farber Cancer Boston, MA 02115, USA *Dept. Medical Genetics and Pediarries, Lab. Genetics, Univ, Wisconsin Madison, WI 53706

Received October 4, 1982. Accepted November 15, 1982.

Nucleotide sequence analysis of a cloned deletion ß-globin gene from a patient with ßo-thulassemia demonstrates a 619 nucleotide deletion extending from the 3' third of the second intervening sequence through 209 bases of 3' flanking DNA. However, an additional novel heptanucleotide was identified between the deletion endpoints, suggesting a complex etiology for this rearrangement.


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