Duplication followed by deletion accounts for the structure of an Indian deletion βo-thalassemia gene

Abstract

Nucleotide sequence analysis of a cloned deletion β-globin gene from a patient with β^o-thulassemia demonstrates a 619 nucleotide deletion extending from the 3′ third of the second intervening sequence through 209 bases of 3′ flanking DNA. However, an additional novel heptanucleotide was identified between the deletion endpoints, suggesting a complex etiology for this rearrangement.