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> Stages de M1 > Stages proposés pour l’année 2012-2013. > Génétique de l’infertilité masculine

Génétique de l’infertilité masculine

proposé par Stéphane Viville, INSERM-CNRS, Strasbourg

Projet de stage : Human infertility is the inability to conceive after two years of regular unprotected intercourses and is due to a male factor in approximately 50% of cases. Our goal is to identify genes which, when mutated are responsible for an infertility phenotype. These results will contribute to a better understanding of the physiopathological process of human reproduction and spermatogenesis. We intend to use the strategy of whole genome mapping to identify genes which, when mutated are responsible for an infertility phenotype. We have already used this approach successfully in the past and believe that this strategy is likely to succeed in identifying many more genes involved in the reproductive process. A new method has promised to speed up discovery of the genetic causes of disease by allowing the parallel sequencing of millions of sequences at high throughput : next generation sequencing (NGS). NGS combined with enrichment technologies will be used also to sequence the exome of the affected persons. This project will have clinical and fundamental repercussions. We expect it to be beneficial to the patients for whom a diagnosis will have been achieved and who will be delivered an appropriate counsel and care. We believe that these results will also contribute to a better understanding of the physiopathological process of human reproduction and spermatogenesis.

Techniques mises en œuvre par le stagiaire : PCR, sequence analysis, SNP microarrays analysis, Cloning, cell culture techniques, Bioinformatic

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