Identification of chromosome abnormalities in the horse using a panel of chromosome-specific painting probes generated by microdissection.
Abstract: Fluorescent in situ hybridisation (FISH) using a panel of molecular probes for all chromosome pairs obtained by chromosome microdissection of the domestic horse ( Equus caballus ) was used to diagnose karyotype abnormalities in 35 horses (32 mares, 2 stallions and 1 intersex), which were selected for the study due to infertility (23 horses), reduced fertility (10 horses) and developmental anomalies (2 horses). The use of the FISH technique with probes for each horse chromosome pair enabled the diagnosis of many different chromosome aberrations in this population. Among the horses analysed, 21 animals had normal karyotype - 64,XX (19 mares) and 64,XY (2 stallions). Fourteen animals, constituting 40% of the population studied, showed the following chromosome abnormalities: 63,X (1 mare); 63,X/64,XX (6 mares); 63,X/64,XX/65,XXX (3 mares); 63,X/65,XXX (1 mare); 64,XX/65,XX+Xp (1 mare); 63,X/64,XX/65,XX+Xq (1 mare), and 63,X/64,XX/65,XX+delY (1 intersex). When only the mares studied because of complete infertility were taken into consideration, this proportion exceeded 56%. Due to the increased frequency of the above-mentioned aberrations in the mosaic form of two or more lines, it was necessary to analyse a large number (100-300) of metaphase spreads. The use of specific molecular probes obtained by chromosome microdissection made these diagnoses much easier.
Publication Date: 2009-07-29 PubMed ID: 19635709DOI: 10.1556/AVet.57.2009.3.3Google Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The research used a fluorescent genetic analysis technique to study chromosome abnormalities in horses being investigated due to fertility issues. It found that 40% of the animals studied had notable chromosome abnormal conditions, which could contribute to their fertility problems.
Study Overview
- The research used Fluorescent in situ hybridisation (FISH), a chromosome labeling technique, with probes designed for each horse chromosome pair.
- The study focused on 35 horses, including 32 mares, 2 stallions, and 1 intersex horse. These animals were selected due to infertility or reduced fertility issues, or developmental anomalies in some cases.
Diagnosis of Abnormalities
- The analysis provided diagnostic information for various chromosome aberrations in this sample of horses.
- The researchers found that 21 horses had a normal karyotype, a type of chromosome structure, with mares having 64, XX and stallions having 64, XY.
- However, 14 animals, or 40% of the total studied, showed abnormal chromosome conditions.
Specific Abnormalities Found
- The conditions identified in these 14 animals ranged from single to multiple aberrations in their chromosome structures.
- The abnormalities included a variety of specific chromosomal conditions, such as 63, X; 63, X/64, XX; 63, X/64, XX/65, XXX; and others.
- The percentage of chromosome abnormalities rose to 56% when we consider only the mares that were studied due to complete infertility.
Method Advantages
- The researchers noted the value of using the FISH technique with the molecular probes designed for each horse chromosome pair. They credited these probes, which were obtained by chromosome microdissection, for making the diagnoses easier.
- They also mentioned that due to the high frequency of mosaic chromosomal conditions, analysing a large number of metaphase spreads (100-300) was necessary to accurately diagnose these conditions.
Cite This Article
APA
Bugno M, Słota E, Pieńkowska-Schelling A, Schelling C.
(2009).
Identification of chromosome abnormalities in the horse using a panel of chromosome-specific painting probes generated by microdissection.
Acta Vet Hung, 57(3), 369-381.
https://doi.org/10.1556/AVet.57.2009.3.3 Publication
Researcher Affiliations
- Department of Immuno- and Cytogenetics, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice/Kraków, Poland. mbugno@izoo.krakow.pl
MeSH Terms
- Animals
- Chromosome Painting / methods
- Chromosome Painting / veterinary
- Disorders of Sex Development / genetics
- Disorders of Sex Development / veterinary
- Female
- Horse Diseases / genetics
- Horses
- In Situ Hybridization, Fluorescence / veterinary
- Infertility / genetics
- Infertility / veterinary
- Karyotyping / veterinary
- Male
- Microdissection / methods
- Microdissection / veterinary
- Sex Chromosome Aberrations / veterinary
Citations
This article has been cited 3 times.- Kij-Mitka B, Cernohorska H, Kubickova S, Prochowska S, Niżański W, Kochan J, Bugno-Poniewierska M. Application of the FISH Technique to Visualize Sex Chromosomes in Domestic Cat Spermatozoa.. Animals (Basel) 2021 Jul 15;11(7).
- Bugno-Poniewierska M, Raudsepp T. Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings.. Animals (Basel) 2021 Mar 16;11(3).
- Umeyama K, Nakano K, Matsunari H, Yamada T, Hasegawa K, Tang K, Tokuyama Y, Watanabe M, Nagaya M, Nagashima H. The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report.. J Reprod Dev 2019 Jun 14;65(3):231-237.
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