A β-Thalassemia Gene Caused by a 290-Base Pair Deletion: Analysis by Direct Sequencing of Enzymatically Amplified DNA

The base composition around a recently detected deletion in the human β-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 endpoint...

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Bibliographic Details
Published inBlood Vol. 73; no. 6; pp. 1695 - 1698
Main Authors Spiegelberg, Renate, Aulehla-Scholz, Christa, Erlich, Henry, Horst, J�rgen
Format Journal Article
LanguageEnglish
Published Washington, DC Elsevier Inc 01.05.1989
The Americain Society of Hematology
Subjects
Base Sequence
Biological and medical sciences
Chromosome Deletion
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Chromosomes, Human, Pair 16
DNA - ultrastructure
Gene Amplification
Globins - genetics
Humans
Hydrogen Bonding
Medical genetics
Medical sciences
Molecular Sequence Data
Nucleic Acid Conformation
Restriction Mapping
Thalassemia - genetics
Human
Hemoglobinopathy
Nucleotide sequence
Hemopathy
Secondary structure
Blood
Characterization
Globin
Polymerase chain reaction
Gene amplification
β-Thalassemia
Restriction map
Enzymatic digestion
Deletion
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Summary:The base composition around a recently detected deletion in the human β-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 β-globin gene contains direct and inverted repeats which may have taken part in generation of this deletion.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V73.6.1695.1695