title: Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.
abstract: Two novel beta-thalassemia mutations are described. The first mutation, found in an Italian family, is a G----A substitution in nucleotide (nt) +22 relative to the beta-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 beta-globin mRNA.
authors.affiliation: Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University School of Medicine, Hamilton, Ontario, Canada.
authors.forename: S P
authors.initials: SP
authors.lastname: Cai
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: W H
authors.initials: WH
authors.lastname: Francombe
authors.forename: N F
authors.initials: NF
authors.lastname: Olivieri
authors.forename: A G
authors.initials: AG
authors.lastname: Kendall
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
mesh_terms: D000328:Adult; D001483:Base Sequence; D002874:Chromosome Mapping; D003062:Codon; D004247:DNA / Q000737:chemistry; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis; D013789:Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D005914:Globins; D004247:DNA