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Nucleic Acids Research, 1982, Vol. 10, No. 6 2109-2120
© 1982

MOLECULAR BIOLOGY

The DNA sequence of the 5' flanking region of the human 0-gk bin gene: evolutionary conservation and polymorphic differences

Nikos Maschonas, Ernie de Boer and Richard A. Flavell

Laboratory of Gene Structure and Expression, National Institute for Medical Research Mill Hill, London NW7 1AA, UK

Received February 2, 1982. Accepted March 5, 1982.

We have determined the DNA sequence of a 1464 bp segment immediately flanking the 5' side of the human ß-globin gene. The sequence shows little similarity to the corresponding regions of the {varepsilon}- or {gamma}-globin genes. There is about 75% homology, however, between the 5' extragenic regions of the ß-globin genes of man, goat and rabbit respectively. The mouse ß minor globin gene, but not the mouse ß major globin gene, also shares this extensive homology. A short segment of simple sequence DNA is found from about 1418 to 1388 bp upstream from the human ß-globin gene which consists of repeats of the sequence (TTTTA). Similar DNA sequences are also found at several sites in the large intron of the ß-globin gene. He have compared the DNA sequence of the 5' extragenic region of the normal ß-globin gene with the same segment of the ß-globin gene of a patient with ß thalassaemia. Of the two nucleotide differences observed, one generates a polymorphic HinfI site present 990 bp upstream from the ß-globin gene in the thalassaemic ß-globin gene and absent in the normal gene. A second ß thalassaemic ß-globin gene which has the same molecular defect as the above mentioned case, however, lacks this HinfI site. It is therefore not yet clear whether this Hinfl site will have any value in prenatal diagnosis of ß°thalassaemia.


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