Publikationsdatenbank

Fertility and 63,X Mosaicism in a Haflinger Sibship (2019)

Art

Zeitschriftenartikel / wissenschaftlicher Beitrag

Autoren

Neuhauser, Stefanie

Handler, Johannes (WE 17)

Schelling, Claude

Pieńkowska-Schelling, Aldona

Quelle

Journal of equine veterinary science

Bandzählung: 78

Seiten: 127 – 133

ISSN: 0737-0806

Sprache

Englisch

Verweise

URL (Volltext): https://linkinghub.elsevier.com/retrieve/pii/S0737080617307244

DOI: 10.1016/j.jevs.2019.05.008

Kontakt

Pferdeklinik

Oertzenweg 19 b
14163 Berlin
+49 30 838 62299 / 62300
pferdeklinik@vetmed.fu-berlin.de

Abstract / Zusammenfassung

Chromosomal abnormalities are notable causes of infertility in horses. Mares show various degrees of estrous behavior, and ultrasound examination often reveals an underdeveloped genital tract. This article reports investigations on fertility in a Haflinger sibship with a healthy, normally developed, fertile mare with at least three healthy offspring. Chromosomal analysis performed incidentally and blinded for this mare revealed 63,X/64,XX/65,XXX mosaicism. Two closely related mares were also mosaics (63,X/64,XX), and one of them was a carrier of a marker chromosome. Repeated examinations of the mare and seven relatives (four mares and three stallions) did not provide evidence for sub- or in-fertility. They had no developmental abnormalities or conspicuous body conditions. Peripheral blood samples were collected for analysis of the karyotype and molecular analyses. Chromosomes were Giemsa stained and 4′,6-diamidino-2-phenylindole banded to identify numerical or structural aberrations of chromosomes and identification of sex chromosomes, respectively. Fluorescence in situ hybridization was performed with an equine Y-chromosome painting probe to identify and count the sex chromosomes, and polymerase chain reaction analysis was used to test for the presence of the SRY gene and investigating chimerism. The present article demonstrates the necessity of further studies analyzing chromosomal X0 mosaics to improve the predictive value of chromosomal aberrations on fertility