A new codon 31 (-C) mutant resulting in beta zero-thalassemia

Proc Natl Sci Counc Repub China B. 1992 Jan;16(1):6-9.

Abstract

A new beta zero-thalassemia mutation, a frameshift mutation with deletion of a single cytosine nucleotide in codon 31, is described. The propositus, which is compound heterozygous for this mutation and the 17 beta A-T beta zero-thalassemia mutation, has the phenotype of severe beta-thalassemia major.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Deletion
  • Codon / genetics*
  • Cytosine
  • DNA / chemistry
  • Globins / genetics*
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nucleic Acid Hybridization
  • Oligonucleotide Probes
  • Thalassemia / genetics*

Substances

  • Codon
  • Oligonucleotide Probes
  • Cytosine
  • Globins
  • DNA