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  • Génétique et Infertilités
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Chromosome Y et stérilité masculine

Resume

L'origine génétique d'une grande proportion des stérilités idiopathiques est aujourd'hui largement reconnue. Des corrélations génotype-phénotype réalisées depuis plusieurs années ont permis d'établir que dans sa partie spécifique du sexe, le chromosome Y pourrait être le support génétique non exclusif d'un grand nombre de ces anomalies. Cette hypothèse se trouve aujourd'hui confortée par la meilleure définition moléculaire des intervalles de délétion de l'Y chez de tels patients. La mise en lumière de différents gènes ou famille de gènes localisés dans ces loci du chromosome Y conservés sur l'Y de différents mammifères mais aussi leurs profils d'expression au cours de la spermatogenèse permettent de postuler leur implication dans de telles stérilités. Cette mini-revue a pour but de dresser un état actuel de nos connaissances dans ce domaine.

Abstract

Over the past decade the tools of cytogenetic investigations, the access to new molecular probes (sequence-tagged sites) and the refinement of chromosome maps have provided the possibility to gain insights on the involvment of the Y chromosome as a support for part of the idiopathic male infertility. The first analysis of genotype-phenotype correlations established the existence of at least three separate intervals (known as Azoospermic Factor (AZF) loci) scattered through the sex specific sequences of the Y chromosome. Diverse genes or families of genes have been cloned so far and now form candidate genes to be equated to one of these azoospermic factors. Our current knowledge is depicted in the following mini-review.

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Berta, P. Chromosome Y et stérilité masculine. Androl. 9, 333–341 (1999). https://doi.org/10.1007/BF03034806

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