A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family

Am J Hematol. 1991 May;37(1):6-8. doi: 10.1002/ajh.2830370103.

Abstract

A new beta zero-thalassemia mutation, a frameshift mutation with an insertion of a single cytosine nucleotide in codon 27-28, is described. The propositus, who is compound heterozygous for this mutation and the IVSII-654 C----T beta zero-thalassemia mutation, has the phenotype of severe beta-thalassemia major.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics*
  • Base Sequence
  • Codon / genetics*
  • Cytosine / analysis
  • DNA / analysis
  • DNA / genetics
  • DNA Transposable Elements
  • Female
  • Frameshift Mutation / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Thalassemia / etiology
  • Thalassemia / genetics*

Substances

  • Codon
  • DNA Transposable Elements
  • Cytosine
  • DNA