Volume: 5, 2026
5th International PhD Students’ Conference at the University of Life Sciences in Lublin, Poland:
ENVIRONMENT – PLANT – ANIMAL – PRODUCT
Abstract number: A021
DOI: https://doi.org/10.24326/ICDSUPL5.A021
Published online: 22 April 2026
Application of sperm-FISH for detecting autosomal chromosomal abnormalities in bulls
Wiktoria Kowal-Mierzwa1*, Kornelia Gała1, Barbara Kij-Mitka1, Anna Szul2, Katarzyna Łącka2 and Monika Bugno-Poniewierska1
1 Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture, 24/28 Mickiewicz St., 30-059 Kraków, Poland
2 Malopolska Biotechnic Centre Ltd., Krasne 32, 36-007 Krasne, Poland
* Corresponding author: wiktoria.kowal@student.urk.edu.pl
The development of molecular cytogenetic techniques, including sperm-FISH (fluorescence in situ hybridization applied to spermatozoa), has significantly advanced bovine reproductive genetics. Analysis of fluorescent signal copy numbers in sperm cells enables the assessment of meiotic segregation patterns, detection of chromosomal aberrations such as aneuploidies and translocations, and consequently the identification of carrier animals. Chromosomal aberrations pose a major challenge in livestock breeding due to their negative impact on fertility and the risk of rapid dissemination through assisted reproductive technologies, highlighting the importance of early detection and elimination from breeding populations. The most common chromosomal rearrangement in cattle is the Robertsonian translocation (1;29). This aberration cannot be detected by SNP-based genomic evaluation because it does not involve the loss or gain of genetic material. Therefore, cytogenetic methods such as sperm-FISH remain essential diagnostic tools for its identification.
The research material consisted of semen samples obtained from 100 bulls in collaboration with the Malopolska Biotechnic Centre in Krasne. The sperm-FISH technique was performed using BAC molecular probes (INRA library) targeting chromosomes BTA1 and BTA29. The analysis demonstrated that sperm-FISH enabled the identification of spermatozoa displaying fluorescent signal patterns indicative of chromosomal abnormalities, including potential aneuploidies and translocations involving chromosomes 1 and 29. Statistical evaluation of sperm samples from individual bulls revealed significant inter-individual variation in the percentage of abnormal spermatozoa (Kruskal–Wallis test, p<0.0001). Furthermore, comparison of the frequency of balanced, adjacent, and disomic or diploid spermatozoa between bulls with <2% and ≥2% total abnormal spermatozoa showed significant differences (Mann–Whitney U test, p<0.0001), indicating distinct meiotic segregation profiles between the analyzed bull groups.
These findings highlight the value of sperm-FISH as an effective diagnostic tool for identifying chromosomal abnormalities that may affect fertility and the genetic quality of breeding populations. Research was financed by the Chromobull project, grant number: 00101.DDD.6509.00197.2022.06.
Keywords: Bos taurus; chromosomal aberrations; sperm-FISH; Robertsonian translocation
How to cite
Kowal-Mierzwa W., Gała K., Kij-Mitka B., Szul A., Łącka K., Bugno-Poniewierska M., 2026. Application of sperm-FISH for detecting autosomal chromosomal abnormalities in bulls. In: 5th International PhD Students’ Conference at the University of Life Sciences in Lublin, Poland: Environment – Plant – Animal – Product. https://doi.org/10.24326/ICDSUPL5.A021