Wspólnotowy Serwis Informacyjny Badan i Rozwoju - CORDIS

Molecular analysis of the human ESR1 gene in male infertility. Implication of the ESR1 gene in male infertility

In a previous genetic analysis, we detected a genetic association of a genetic variant within the 5´ region of the ESR1 gene with male infertility. These results indicate the putative presence of a mutation or a genomic rearrangement within the ESR1 locus.

To identify the possible mutation, we designed and analysed a high density panel of markers within the ESR1 gene. This panel is comprised of 14 SNP markers along the genomic region of the ESR1 gene.

The results derived from the marker panel analyses firmly support the existence of this putative mutation.

We are currently performing the positional cloning of this mutation by increasing the density of the marker panel.

Once we have identified the mutation, a testing protocol to detect its presence in human samples will be developed, and with this protocols different series of patients affected by estrogen related diseases will be analysed.

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Edificio Estación Monoraíl. Avd. Charles Darwin s/n. Isla de la Cartuja
41092 Sevilla
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