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Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers

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 us...

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Autores principales: Kim, Young June, Kwon, Hyuk Jin, Byun, Hyuk Soo, Yeom, Donguk, Choi, Jea-Hong, Kim, Joong-Hyun, Shim, Hosup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Veterinary Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5746449/
https://www.ncbi.nlm.nih.gov/pubmed/27515263
http://dx.doi.org/10.4142/jvs.2017.18.4.547
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author Kim, Young June
Kwon, Hyuk Jin
Byun, Hyuk Soo
Yeom, Donguk
Choi, Jea-Hong
Kim, Joong-Hyun
Shim, Hosup
author_facet Kim, Young June
Kwon, Hyuk Jin
Byun, Hyuk Soo
Yeom, Donguk
Choi, Jea-Hong
Kim, Joong-Hyun
Shim, Hosup
author_sort Kim, Young June
collection PubMed
description 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.
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spelling pubmed-57464492018-01-04 Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers Kim, Young June Kwon, Hyuk Jin Byun, Hyuk Soo Yeom, Donguk Choi, Jea-Hong Kim, Joong-Hyun Shim, Hosup J Vet Sci Short Communication 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. The Korean Society of Veterinary Science 2017-12 2017-12-18 /pmc/articles/PMC5746449/ /pubmed/27515263 http://dx.doi.org/10.4142/jvs.2017.18.4.547 Text en © 2017 The Korean Society of Veterinary Science http://creativecommons.org/licenses/by-nc/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Communication
Kim, Young June
Kwon, Hyuk Jin
Byun, Hyuk Soo
Yeom, Donguk
Choi, Jea-Hong
Kim, Joong-Hyun
Shim, Hosup
Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers
title Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers
title_full Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers
title_fullStr Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers
title_full_unstemmed Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers
title_short Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers
title_sort surveyor assay to diagnose persistent müllerian duct syndrome in miniature schnauzers
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5746449/
https://www.ncbi.nlm.nih.gov/pubmed/27515263
http://dx.doi.org/10.4142/jvs.2017.18.4.547
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