A PCR-based strategy to detect the common severe determinants of alpha thalassaemia

Br J Haematol. 1992 May;81(1):104-8. doi: 10.1111/j.1365-2141.1992.tb08180.x.

Abstract

A rapid and inexpensive polymerase chain reaction (PCR) based strategy is described which detects the three common, severe alpha thalassaemia determinants observed in southeast Asia (--SEA) and the Mediterranean (--MED and -(alpha)20.5). Oligonucleotide primers have been chosen which allow specific identification of both normal (alpha alpha) and abnormal (--) chromosomes using identical conditions in either the same or parallel PCR reactions. This strategy should be useful in the development of screening programmes to identify carriers of alpha thalassaemia (--/alpha alpha) and prenatal diagnosis of the Hb Bart's hydrops fetalis syndrome (--/--) for those populations in which this represents a major cause of perinatal death.

MeSH terms

  • Base Sequence
  • DNA / genetics
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Humans
  • Hydrops Fetalis / diagnosis
  • Hydrops Fetalis / genetics
  • Mass Screening
  • Molecular Sequence Data
  • Oligonucleotides / analysis
  • Polymerase Chain Reaction
  • Prenatal Diagnosis
  • Thalassemia / genetics*
  • Thalassemia / prevention & control

Substances

  • Oligonucleotides
  • DNA