Nucleic Acids Research, 1982, Vol. 10, No. 8 2759
© 1982
Corrigendum |
Corrigendum
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
- or 
-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 and ß major globin genes both show about 65% homology to the human ß globin gene in this region. 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. We 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 ßO 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 ßO 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 HinfI site will have any value in prenatal diagnosis of ßo thalassaemia.