DNA fragmentation and meiotic segregation in sperm of carriers of a chromosomal structural abnormality.
OBJECTIVE
To determine the meiotic segregation and DNA fragmentation in spermatozoa of carriers of a chromosomal structural abnormality.


METHODS
Case series.


METHODS
University hospital.


METHODS
Thirty-seven male carriers of a chromosomal structural abnormality (21 with a balanced reciprocal translocation, 7 with a robertsonian translocation, 9 with a pericentric inversion).


METHODS
Meiotic segregation was analyzed by the human sperm-hamster oocyte fusion technique or by fluorescent in situ hybridization, and DNA fragmentation was detected by terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling assay.


METHODS
Relationships between abnormal sperm parameters, DNA fragmentation, and meiotic mechanisms.


RESULTS
The average rates of chromosomally unbalanced spermatozoa were 55.22%, 14.09%, and 18.43% for reciprocal translocation, robertsonian translocation, and pericentric inversion carriers, respectively. The rates of DNA fragmentation were significantly higher in the whole group of carriers of a chromosomal structural abnormality and in each specific group than in the control group. No correlations between sperm DNA fragmentation and parameters of spermogram, age, or percentage of unbalanced chromosomal gametes were found.


CONCLUSIONS
The DNA fragmentation rate depends solely on the presence of a chromosomal structural abnormality, and, therefore, a chromosomal structural abnormality predicts DNA fragmentation. Both meiotic segregation and DNA fragmentation studies should be integrated in the genetic exploration of male carriers of a chromosomal structural abnormality.
Perrin
Aurore
A
Laboratoire d'Histologie, Embryologie et Cytogénétique, Université de Bretagne Occidentale, Faculté de Médecine et des Sciences de la Santé, Brest, France.
Caer
Emilie
E
Oliver-Bonet
Maria
M
Navarro
Joaquima
J
Benet
Jordi
J
Amice
Véronique
V
De Braekeleer
Marc
M
Morel
Frédéric
F
D017209:Apoptosis / Q000235:genetics*; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D053938:DNA Fragmentation; D006579:Heterozygote; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D008540:Meiosis / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics*; D013094:Spermatozoa