Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia

Ann N Y Acad Sci. 2006 Sep:1075:148-53. doi: 10.1196/annals.1368.020.

Abstract

The development of a noninvasive method for detection of beta-thalassemia in the population of Cyprus is based on the detection of paternally inherited single nucleotide polymorphisms (SNPs) as well as beta-thalassemia (beta-thal) mutations. We selected 11 informative SNPs for the Cypriot population linked to the beta-globin locus. Two different approaches were used: allele-specific polymerase chain reaction (AS-PCR) and the arrayed primer extension (APEX) method. The AS-PCR approach is being standardized, and the method was applied in two families. The paternally inherited allele was noninvasively detected with the AS-PCR approach on maternal plasma. Some preliminary tests were performed with the APEX method on genomic DNA of parents carrying the beta-thal mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cyprus
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Single Nucleotide*
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Sensitivity and Specificity
  • beta-Thalassemia* / diagnosis
  • beta-Thalassemia* / genetics