Direct carrier detection and prenatal diagnosis of Sicilian and Spanish (delta beta)zero-thalassemias

Mol Cell Probes. 1993 Apr;7(2):167-8. doi: 10.1006/mcpr.1993.1024.

Abstract

We describe a direct method for detection of the Spanish and Sicilian (delta beta)zero-thalassemias. This method is based on the use of the deletion-junction sequences to design specific PCR primers. It permits a rapid screening of heterozygotes in populations at risk and provides a useful tool for early prenatal diagnosis of these forms of thalassemia.

Publication types

  • Comparative Study

MeSH terms

  • Base Sequence
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Genetic Carrier Screening*
  • Genetic Testing / methods*
  • Globins / genetics*
  • Humans
  • Molecular Sequence Data
  • Oligonucleotide Probes
  • Polymerase Chain Reaction*
  • Prenatal Diagnosis / methods*
  • Sequence Deletion
  • Sicily / ethnology
  • Spain / ethnology
  • beta-Thalassemia / classification
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / embryology
  • beta-Thalassemia / genetics
  • beta-Thalassemia / prevention & control*

Substances

  • Oligonucleotide Probes
  • Globins