title: A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA.
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.
authors.affiliation: Institut für Humangenetik der Universität, Münster, FRG.
authors.forename: R
authors.initials: R
authors.lastname: Spiegelberg
authors.forename: C
authors.initials: C
authors.lastname: Aulehla-Scholz
authors.forename: H
authors.initials: H
authors.lastname: Erlich
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D004247:DNA / Q000648:ultrastructure; D005784:Gene Amplification; D005914:Globins / Q000235:genetics*; D006801:Humans; D006860:Hydrogen Bonding; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D015183:Restriction Mapping; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA