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2. A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA.

Author

Spiegelberg R, Aulehla-Scholz C, Erlich H, and Horst J

Subjects
Base Sequence, DNA ultrastructure, Gene Amplification, Humans, Hydrogen Bonding, Molecular Sequence Data, Nucleic Acid Conformation, Restriction Mapping, Chromosome Deletion, Chromosomes, Human, Pair 16, Globins genetics, Thalassemia genetics
Abstract

The base composition around a recently detected deletion in the human beta-globin gene was determined by direct DNA sequencing of an enzymatically amplified DNA segment. The deletion removes 290 base pairs (bp), including the entire exon 1 and the mRNA cap site. In the vicinity of the deletion endpoints, the normal beta-globin gene contains direct and inverted repeats which may have taken part in generation of this deletion.

Published
1989

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