Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers

J Vet Sci. 2017 Dec 31;18(4):547-549. doi: 10.4142/jvs.2017.18.4.547.

Abstract

Persistent Müllerian duct syndrome (PMDS) is a pseudohermaphroditism in males characterized by the presence of Müllerian duct derivatives. As PMDS dogs often lack clinical symptoms, a molecular diagnosis is essential to identify the syndrome in these animals. In this study, a new molecular method using DNA mismatch-specific Surveyor nuclease was developed. The Surveyor nuclease assay identified the AMHR2 mutation that produced PMDS in a Miniature Schnauzer as accurately as that obtained by using the conventional method based on restriction digestion. As an alternative to the current molecular diagnostic method, the new method may result in increased accuracy when detecting PMDS.

Keywords: Miniature Schnauzer; persistent Müllerian duct syndrome; surveyor nuclease assay.

MeSH terms

  • Animals
  • Disorder of Sex Development, 46,XY / diagnosis*
  • Disorder of Sex Development, 46,XY / genetics
  • Dog Diseases / diagnosis*
  • Dog Diseases / genetics
  • Dogs
  • Male
  • Molecular Diagnostic Techniques / methods
  • Molecular Diagnostic Techniques / veterinary*
  • Receptors, Peptide*
  • Receptors, Transforming Growth Factor beta*

Substances

  • Receptors, Peptide
  • Receptors, Transforming Growth Factor beta
  • anti-Mullerian hormone receptor

Supplementary concepts

  • Persistent Mullerian duct syndrome