Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse

Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby,...

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Detalles Bibliográficos
Autores principales:	Anaya, G., Molina, A., Valera, M., Moreno Millán, M., Azor, P., Peral García, Pilar, Demyda Peyrás, S.
Formato:	Articulo
Lenguaje:	Inglés
Publicado:	2017
Materias:	Zoología chimerism diagnostic tool equines genetic infertility microsatellites molecular characterization mosaicism sex reversal syndrome turner syndrome
Acceso en línea:	http://sedici.unlp.edu.ar/handle/10915/82369
Aporte de:	SEDICI (UNLP) de Universidad Nacional de La Plata

id	I19-R120-10915-82369
record_format	dspace
institution	Universidad Nacional de La Plata
institution_str	I-19
repository_str	R-120
collection	SEDICI (UNLP)
language	Inglés
topic	Zoología chimerism diagnostic tool equines genetic infertility microsatellites molecular characterization mosaicism sex reversal syndrome turner syndrome
spellingShingle	Zoología chimerism diagnostic tool equines genetic infertility microsatellites molecular characterization mosaicism sex reversal syndrome turner syndrome Anaya, G. Molina, A. Valera, M. Moreno Millán, M. Azor, P. Peral García, Pilar Demyda Peyrás, S. Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse
topic_facet	Zoología chimerism diagnostic tool equines genetic infertility microsatellites molecular characterization mosaicism sex reversal syndrome turner syndrome
description	Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)- based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAXIinked (LEX026, LEX003, TKY38, TKY270 and UCDE0502) and two ECAY-Iinked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool. All the microsatellites analyzed were highly polymorphic, with a sizeable number of alleles (polymorphic information content > 0.5). Based on this variability, the methodology showed 100% sensitivity and 99.82% specificity to detect the most important sex chromosomal abnormalities reported in horses (chimerism, Turner’s syndrome and sex reversal syndromes). The method was also validated with 100% efficiency in 10 individuals previously diagnosed as chromosomally aberrant. This STR screening panel is an efficient and reliable molecular-cytogenetic tool for the early detection of sex chromosomal abnormalities in equines that could be included in breeding programs to save money, effort and time of veterinary practitioners and breeders.
format	Articulo Articulo
author	Anaya, G. Molina, A. Valera, M. Moreno Millán, M. Azor, P. Peral García, Pilar Demyda Peyrás, S.
author_facet	Anaya, G. Molina, A. Valera, M. Moreno Millán, M. Azor, P. Peral García, Pilar Demyda Peyrás, S.
author_sort	Anaya, G.
title	Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse
title_short	Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse
title_full	Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse
title_fullStr	Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse
title_full_unstemmed	Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse
title_sort	sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the purebred spanish horse
publishDate	2017
url	http://sedici.unlp.edu.ar/handle/10915/82369
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bdutipo_str	Repositorios
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Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse

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