Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion.

Type

Journal article

Journal

Blood

Publication Date

01/07/1990

Volume

76

Pages

221 - 227

Keywords

Animals, Base Sequence, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 16, Down-Regulation, Genotype, Globins, Humans, Hybrid Cells, Mice, Molecular Sequence Data, Mutation, Phenotype, Thalassemia