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L’Equipement chromosomique du spermatozoïde

Sperm chromosal constitution

Resume

Les études cytogénétiques de spermatozoïdes entreprises depuis une dizaine d’années ont permis d’explorer le sperme de sujets normaux et de patients porteurs de remaniements chromosomiques variés. Environ 10% des spermatozoïdes de sujets normaux comportent une anomalie le plus souvent structurale, qui n’affecte en rien le pouvoir fécondant. L’apport majeur de la technique est constitué par la possibilité d’analyser directement un grand nombre de ségrégations pour un même sujet. Il apparaît ainsi que les translocations présentent souvent un taux de déséquilibre supérieur à 50%, avec un profil de ségrégation relativement stéréotypé.

Abstract

Cytogenetics of human sperm chromosomes has been developped by few laboratories during the last decade, in order to investigate dysfuncitons of meiosis in normal men and in carriers of chromosomal abnormalities. On the basis of pooled data, it can be established that normal men produce almost 10% of abnormal spermatozoa, including a majority of structural aberrations (6.5%). Frequency of hyperhaploïdies, resulting from chromosome malsegregations, seems to be equally distributed among all chromosome groups. A study of in vivo recently irradiated patients demonstrates that despite a high incidence of multiple rearrangements, the sperm fertilizing ability is not reduced. Segregation of additional chromosomes can also be studied in fertile carriers; such as study has demonstrated that, in a mosaic patient, 47 XXY germ cells are able to complete meiosis. Finally the major application of the technique consists in direct segregation analysis of structural chromosome rearrangements. The sperm of such carriers exhibits a higher proportion of unbalanced spermatozoa than generally expected in offsprings.

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Correspondence to Sele Bernard.

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Bernard, S. L’Equipement chromosomique du spermatozoïde. Androl. 4, 22–29 (1994). https://doi.org/10.1007/BF03034616

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Mots clés

  • Spermatozoïdes
  • Chromosomes
  • Ségrégations
  • Translocations
  • Fécondation
  • Méiose

Keywords

  • human sperm chromosomes
  • meiotic segregation
  • chromosomal translocations
  • Klinefelter
  • irradiation
  • in vitro fertilization