Two Novel β-Thalassemia Mutations in the 5’ and 3’ Noncoding Regions of the β-Globin Gene

• Published in: Blood Vol. 79; no. 5; pp. 1342 - 1346
• Main Authors: Cai, Shi-Ping, Eng, Barry, Francombe, William H., Olivieri, Nancy F., Kendall, Alan G., Waye, John S., Chui, David H.K.
• Format: Journal Article
• Language: English
• Published: Washington, DC Elsevier Inc 01-03-1992; The Americain Society of Hematology
• Subjects: Adult; Anemias. Hemoglobinopathies; Base Sequence; Biological and medical sciences; Chromosome Mapping; Codon; Diseases of red blood cells; DNA - chemistry; Globins - genetics; Hematologic and hematopoietic diseases; Humans; Male; Medical sciences; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Protein Biosynthesis; Thalassemia - genetics; Globin; Human; Hemoglobinopathy; Italian; Gene; β-Thalassemia; Family study; Beta-Peptide chain; Hemopathy; Diagnosis; Mutation; Genetic disease
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V79.5.1342.1342

Two novel β-thalassemia mutations are described. The first mutation, found in an Italian family, is a G→A substitution in nucleotide (nt) +22 relative to the β-globin gene Cap site. This mutation creates a cryptic ATG initiation codon, the utilization of which for translation would result in premature termination 36 bp 3’ downstream. The second mutation, found in an Irish family, is a T→C substitution in nt +1570, or 12 bp 5’ upstream of the AATAAA polyadenylation signal in the 3’ noncoding region. It is postulated that this mutation leads to destabilization of the encoded β-globin mRNA.