Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis

Prenat Diagn. 1999 Jan;19(1):36-40.

Abstract

We have performed prenatal diagnosis for Wiskott Aldrich syndrome (WAS) in two unrelated families by direct gene analysis. Using a combined non-radioactive analysis of single-strand conformational polymorphism (SSCP) and heteroduplex formation (HD), followed by automated sequencing, we studied DNA from chorionic villus sampling (CVS), allowing the diagnosis of one affected and one healthy male at the 12th week of gestation.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Chorionic Villi Sampling
  • DNA Mutational Analysis*
  • Female
  • Gestational Age
  • Humans
  • Male
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Pregnancy
  • Prenatal Diagnosis*
  • Proteins / genetics*
  • Sequence Analysis, DNA
  • Wiskott-Aldrich Syndrome / diagnosis*
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome Protein

Substances

  • Proteins
  • WAS protein, human
  • Wiskott-Aldrich Syndrome Protein