Hum. Reprod. Advance Access originally published online on December 8, 2005
Human Reproduction 2006 21(3):685-693; doi:10.1093/humrep/dei401
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Study of two markers of apoptosis and meiotic segregation in ejaculated sperm of chromosomal translocation carrier patients
1 Biologie de la Reproduction, CECOS, 2 Département de gynécologie obstétrique et reproduction humaine and 3 Research Centre Reproductive and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Belgium and 4 EA 975, Biologie de la Reproduction, Faculté de Médecine, BP 38, 63000 Clermont-Ferrand, France
5 To whom correspondence should be addressed: fbrugnon{at}chu-clermontferrand.fr
BACKGROUND: To try to explain the infertility of chromosomal translocation carrier patients, we compared the expression of two markers of apoptosis in the sperm of patients and of fertile donors, and we studied the meiotic segregation in the ejaculated sperm of these translocation carriers. METHODS: Twenty semen samples of translocation carriers, [reciprocal (n = 14) and Robertsonian translocations (n = 6)], were compared with the semen samples of donors (n = 20). Different tests were applied: annexin V binding assay; terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labelling (TUNEL); and fluorescence in situ hybridization (FISH). RESULTS: The annexin V binding assay in sperm of patients with chromosomal translocation (n = 17) showed a significantly increased proportion of sperm with externalized phosphatidylserine (PS) than in the control group (n = 20, P 
0.05). The rates of DNA fragmentation investigated by TUNEL reaction were higher in samples of translocation carriers (n = 14) than in donors (n = 20, P < 0.0001). The measures by FISH technique showed that the proportions of balanced or normal gametes were predominant in the reciprocal translocation group (alternate: n = 7; from 33.0 to 58.8%; adjacent I: n = 7; from 4.6 to 43.8%) and in the Robertsonian translocation group (normal: n = 5; from 76.0 to 88.5%). CONCLUSIONS: Our data show a predominant proportion of balanced gametes in sperm of chromosomal translocation carrier patients. Moreover, PS externalization and DNA fragmentation rates are significantly higher in ejaculated sperm of these patients than in donor sperm. These tests could be used to predict the outcome of ICSI for these patients.
Key words: apoptosis/chromosomal translocation/DNA fragmentation/meiotic segregation/phosphatidylserine externalization
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