Molecular diagnosis of A gamma hereditary persistence of fetal hemoglobin using polymerase chain reaction and oligonucleotide analysis

Haematologica. 1990 Jan-Feb;75(1):17-20.

Abstract

By combining the polymerase chain reaction (PCR) of the gamma globin gene promoters with synthetic oligonucleotide analysis we have diagnosed the -196 C----T and the -117 G----A substitutions in heterozygous carriers of non deletional A gamma HPFH from two unrelated Italian families. The identification of the beta-thalassemic defect in a compound heterozygote for -196 A gamma HPFH/beta thalassemia allows us to discuss the effect of this gamma promoter mutation on the globin chain synthetic pattern, and to make a comparison with the mutation at the -117 position.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Female
  • Fetal Hemoglobin*
  • Gene Amplification*
  • Genetic Carrier Screening
  • Globins / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Oligonucleotide Probes*
  • Pedigree
  • Polymerase Chain Reaction*
  • Promoter Regions, Genetic
  • Thalassemia / diagnosis*
  • Thalassemia / genetics

Substances

  • Oligonucleotide Probes
  • Globins
  • Fetal Hemoglobin