β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

@article{Kioussis1983GlobinGI,
  title={β-Globin gene inactivation by DNA translocation in γβ-thalassaemi},
  author={Dimitris Kioussis and Elio Vanin and T. deLange and Richard A Flavell and Franklin Gerardus Grosveld},
  journal={Nature},
  year={1983},
  volume={306},
  pages={662-666}
}
The β-globin gene present on the deletion locus in a Dutch γβ-thalassaemic patient was found to be identical to the normal β-globin gene with respect to DNA sequence and its transcription in HeLa cells. DNase I sensitivity and methylation experiments show that the affected β-globin gene is present in an inactive configuration in vivo. This is the result of a translocation of a normally inactive locus next to the β-globin gene on the affected chromosome, or the deletion of sequences which are… CONTINUE READING

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