Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome

Warmblood Fragile Foal syndrome (WFFS) is an autosomal recessive condition that affects the maturation of collagen in affected foals. Foals affected with the disease typically die or are euthanised shortly after birth. WFFS is caused by a single nucleotide change at position 2032 of the equine PLOD1...

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Autores principales:	Sharon Flanagan, Áine Rowe, Vivienne Duggan, Erin Markle, Maureen O’Brien, Gerald Barry
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/48bf27371cb94be390f0daea6f322478
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spelling	oai:doaj.org-article:48bf27371cb94be390f0daea6f3224782021-11-25T05:54:27ZDevelopment of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome1932-6203https://doaj.org/article/48bf27371cb94be390f0daea6f3224782021-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8575260/?tool=EBIhttps://doaj.org/toc/1932-6203Warmblood Fragile Foal syndrome (WFFS) is an autosomal recessive condition that affects the maturation of collagen in affected foals. Foals affected with the disease typically die or are euthanised shortly after birth. WFFS is caused by a single nucleotide change at position 2032 of the equine PLOD1 gene, causing an impairment of the wild-type enzyme. A commercial test for the causative genetic mutation is currently available from companies operating under licence from Cornell University but it has limitations. This test requires amplification of a region of the PLOD1 gene encompassing the site of interest, followed by Sanger sequencing of that region and computational analysis. We describe here the development of an alternative, real-time PCR based assay that rapidly and reliably differentiates between the wild-type and WFFS associated nucleotides without the need for sequencing, thus increasing the potential for high throughput analysis of large numbers of samples in a cost-effective manner.Sharon FlanaganÁine RoweVivienne DugganErin MarkleMaureen O’BrienGerald BarryPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sharon Flanagan Áine Rowe Vivienne Duggan Erin Markle Maureen O’Brien Gerald Barry Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome
description	Warmblood Fragile Foal syndrome (WFFS) is an autosomal recessive condition that affects the maturation of collagen in affected foals. Foals affected with the disease typically die or are euthanised shortly after birth. WFFS is caused by a single nucleotide change at position 2032 of the equine PLOD1 gene, causing an impairment of the wild-type enzyme. A commercial test for the causative genetic mutation is currently available from companies operating under licence from Cornell University but it has limitations. This test requires amplification of a region of the PLOD1 gene encompassing the site of interest, followed by Sanger sequencing of that region and computational analysis. We describe here the development of an alternative, real-time PCR based assay that rapidly and reliably differentiates between the wild-type and WFFS associated nucleotides without the need for sequencing, thus increasing the potential for high throughput analysis of large numbers of samples in a cost-effective manner.
format	article
author	Sharon Flanagan Áine Rowe Vivienne Duggan Erin Markle Maureen O’Brien Gerald Barry
author_facet	Sharon Flanagan Áine Rowe Vivienne Duggan Erin Markle Maureen O’Brien Gerald Barry
author_sort	Sharon Flanagan
title	Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome
title_short	Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome
title_full	Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome
title_fullStr	Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome
title_full_unstemmed	Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome
title_sort	development of a real-time pcr assay to detect the single nucleotide polymorphism causing warmblood fragile foal syndrome
publisher	Public Library of Science (PLoS)
publishDate	2021
url	https://doaj.org/article/48bf27371cb94be390f0daea6f322478
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Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome

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