The ambiguity of freemartinism diagnosis in cattle revealed by cytogenetic and molecular techniques
Nowacka, J.(August Cieszkowski Agricultural Univ., Poznan (Poland). Dept. of Genetics and Animal Breeding) | Switonski, M.(August Cieszkowski Agricultural Univ., Poznan (Poland). Dept. of Genetics and Animal Breeding)E-mail:[email protected] | Mackowski, M.(August Cieszkowski Agricultural Univ., Poznan (Poland). Dept. of Genetics and Animal Breeding) | Slota, E.(August Cieszkowski Univ., Poznan (Poland). Dept. of Agricultural Veterinary) | Radko, A.(August Cieszkowski Univ., Poznan (Poland). Dept. of Agricultural Veterinary) | Zabek, T.(August Cieszkowski Univ., Poznan (Poland). Dept. of Agricultural Veterinary) | Urbaniak, K.(National Research Inst. of Animal Production, Balice (Poland))
Nineteen heifers and three male co-twins, originating from heterosexual twin pregnancies, were analysed with the use of cytogenetic and molecular techniques. A large number (50-400) of Giemsa stained metaphase spreads were studied and the proportion of XX and XY cell lines was calculated. The presence of two genes - SRY and AMEL (AMELX and AMELY) - was also analysed. Both approaches facilitated the identification of the XX/XY chimerism in 17 females and 3 males. The proportion of the co-twin cell line ranged from 1 to 99%. In two females no chimerism was detected: (1) 60,XY male chromosome complement in all 400 metaphase spreads; SRY-positive, AMELY-positive, AMELX-positive and (2) 60,XX female chromosome complement in all 200 metaphase spreads; SRY-negative, AMELY-negative, AMELX-positive. The usefulness of different techniques for the diagnosis of freemartinism is discussed.
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