Detection of alpha-thalassemia-1 (Southeast Asian type) and its application for prenatal diagnosis

Clin Genet. 1995 Jun;47(6):318-20. doi: 10.1111/j.1399-0004.1995.tb03972.x.

Abstract

A simple non-radioactive method based on the polymerase chain reaction was used to detect the Southeast Asian type of alpha-thalassemia 1 (--). Three oligonucleotide primers, one of which was adjacent to the breakpoint of the alpha-thalassemia-1 allele, were used to amplify the 570 and 194 bp DNA fragments. The 570 bp product was specific to the alpha-thalassemia-1 determinant and the 194 bp fragment was amplified from either the alpha-thalassemia-2 (-alpha) or normal alpha-globin (alpha alpha) determinants. In Hb Bart's hydrops fetalis (--/--), only the 570 bp fragment was obtained, whereas the 194 bp fragment was amplified in normal individual (alpha alpha/alpha alpha) and alpha-thalassemia-2 trait (-alpha/alpha alpha). Both 570 and 194 bp fragments were detected in alpha-thalassemia-1 trait (--/alpha alpha) and Hb H patients (--/-alpha). This procedure is useful for the rapid screening of alpha-thalassemia-1 trait and prenatal diagnosis of Hb Bart's hydrops fetalis in populations with a high frequency of the Southeast Asian Type of alpha-thalassemia-1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asia, Southeastern / epidemiology
  • Base Sequence
  • Case-Control Studies
  • Female
  • Genetic Testing
  • Globins / genetics
  • Heterozygote
  • Humans
  • Hydrops Fetalis / diagnosis*
  • Hydrops Fetalis / genetics
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • alpha-Thalassemia / genetics*

Substances

  • Globins