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Nucleic Acids Research, 1981, Vol. 9, No. 8 1777-1788
© 1981

MOLECULAR BIOLOGY

An intron nucleotide sequence variant in a cloned ß+-thalassaemia globin gene

David Westaway* and Robert Williamson

Department of Biochemistry, St. Mary's Hospital Medical School, University of London London W2 1PG, UK

Received March 13, 1981.

A 7.5 kb Hsu I restriction fragment of genomic DNA containing a ß-globin gene has been isolated from a patient doubly heterozygous for ß+ thalassaemia and a {delta}ß (Lepore) globin fusion gene. This fragment must be derived from the chromosome carrying the ß+-thalassaemia determinant. The gross structure of the cloned gene plus flanking sequences is indistinguishable from that of a normal ß-globin gene. Within the 1606 base-pair transcribed region of the gene there is only one nucleotide difference from the normal ß-globin gene sequence. This is a G->A replacement 21 nucleotides upstream from the 3' terminus of the small intron. This nucleotide lies within a 10 base-pair sequence repeated in an inverted configuration near the 5' terminus of the small intron. The nucleotide replacement may result in a precursor mRNA less amenable to RNA splicing than its normal counterpart.

*Present address: Department of Microbiology and Immunology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143, USA. Reprint requests to this address.


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