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

• Published in: Blood Vol. 73; no. 6; pp. 1695 - 1698
• Main Authors: Spiegelberg, Renate, Aulehla-Scholz, Christa, Erlich, Henry, Horst, J�rgen
• Format: Journal Article
• Language: English
• 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

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...