J. Appl. Genet. 44(3), 2003, pp. 379-382
Case report
Detection of the XXY trisomy in a bull by using
sex chromosome painting probes
Ewa S£OTA, Anna KOZUBSKA-SOBOCIÑSKA, Mariusz KOŒCIELNY,
Barbara DANIELAK-CZECH, Barbara REJDUCH
Department of Immuno- and Cytogenetics, National Research Institute of Animal Production,
Balice/Kraków, Poland
Abstract. Two cattle chromosome painting probes, identifying X and Y heterosomes,
were applied to verify the diagnosis of XXY trisomy in an 8-month-old bull of the Polish Red breed. The probes were obtained after chromosome microdissection and labelled with biotin-16-dUTP. In all metaphase spreads, three fluorescence signals were
observed - two X and one Y - confirming the diagnosis of a pure XXY trisomy.
Key words: cattle, FISH, painting probe, XXY trisomy.
XXY trisomy in cattle was described for the first time by SCOTT and GREGORY
(1965). Until now few cases of this syndrome were found in cattle and the carriers
demonstrated pure or mosaic/chimeric karyotype. Among the carriers diagnosed
in Poland, two bulls were characterized by karyotype 61,XXY, and two others by
61,XXY/60,XX and 61,XXY/60,XY (S£OTA et al. 1982, SYSA, S£OTA 1985,
DANIELAK et al. 1988). This anomaly is always associated with testicular
hypoplasia and oligospermia or even azoospermia, which results from degradation of seminiferous tubules and sometimes also poor somatic development
(RIECK et al. 1970, SYSA 1996).
In cattle, preliminary diagnosis of pure, mosaic or chimeric XXY trisomy
is based on Giemsa staining due to morphology of the sex chromosomes.
In the described case the XXY syndrome in the Polish Red bull (no. 1446) was
preliminarily diagnosed by Giemsa staining. In all spreads 61 chromosomes were
Received: June 23, 2003. Accepted: July 10, 2003.
Correspondence: E. S£OTA, Department of Immuno- and Cytogenetics, National Research Institute
of Animal Production, ul. Krakowska 1, 32-083 Balice, Poland, e-mail: [email protected]
380
E. S³ota et al.
Figure 1. Metaphase chromosomes of bull no. 1446 with karyotype 61,XXY: (a) hybridization
with X chromosome painting probe; (b) hybridization with both sex chromosome painting
probes. Arrows indicate fluorescence signals.
observed: 58 acrocentrics, two large submetacentric X chromosomes and one
small metacentric Y chromosome. The eight-month-old bull was investigated
within the framework of karyotype control system of AI bulls. The bull’s parents,
sire Cardinal no. 90482-9-7 and four-year-old dam Gonda no. 1012, showed normal karyotypes 60,XY and 60,XX, respectively. Preliminary diagnosis of
XXY trisomy in a bull
381
the XXY trisomy was confirmed by the FISH technique according to PINKEL et al.
(1986) and SOLINAS-TOLDO et al. (1993), using X- and Y-specific painting
probes. These probes were obtained by microdissection of about 15 X and Y cattle
heterosomes, amplified by DOP-PCR and biotinylated with biotin-16-dUTP.
The probes were received from the Swiss Federal Institute of Technology (Zurich). Two hybridisation experiments were performed. In the first experiment,
the X chromosome painting probe was used and two distinct fluorescent signals
were visualised in all metaphase spreads (Figure 1a). In the second experiment,
both painting probes (for X and Y chromosome) were applied and three chromosomes were painted. Two large signals indicated the X chromosomes
and a smaller one indicated the Y chromosome (Figure 1b). In each experiment,
50 metaphase spreads were analysed. In the investigated bull, only one cell line
with XXY trisomy was present.
The application of painting probes and the FISH technique is a very useful
method for heterosome trisomy diagnosis, which facilitates exclusion of
chimerism or mosaicism, which is often associated with this syndrome.
The XXY trisomy was also diagnosed in rams (BRUERE, KILGOUR 1974).
Taking into consideration the synteny conservation of the X chromosome in
the family Bovidae, the cattle X painting probe can be applied to diagnose X
aneuploidy in sheep and goats, too. In both species identification of the X chromosome is difficult due to its morphology and needs to be confirmed by a banding
technique. By using the FISH technique and the whole human X chromosome
painting probe, Klinefelter syndrome was also diagnosed in a boar (MAKINEN et
al. 1998).
Acknowledgements. This work was conducted as a part of statutory activity of
the National Research Institute of Animal Production, Balice/Krakow, Poland, project no. 3203.1. We are grateful to the Swiss Federal Institute of Technology (Zurich),
who kindly provided us with sex chromosome painting probes.
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