We identified 27 coding variants (22 genes) potentially related to the phenotype (41% of patients). The present study involved whole-exome sequencing and an innovative bioinformatics analysis, for the first time, in 49 unrelated women affected by recurrent pregnancy loss. In such scenario, next generation sequencing provides a potentially interesting tool for research into recurrent pregnancy loss causative mutations. This might have been due to the fact that hundreds of genes are involved in each physiological step necessary for guaranteeing reproductive success in mammals. Concerning its molecular aetiology numerous studies have had limited success in identifying the disease's genetic causes. It has been estimated that the cause remains unexplained in >50% cases which strongly suggests that genetic factors may contribute towards the phenotype. Recurrent pregnancy loss is a frequently occurring human infertility-related disease affecting ~1% of women. Quintero-Ronderos, Paula Mercier, Eric Fukuda, Michiko González, Ronald Suárez, Carlos Fernando Patarroyo, Manuel Alfonso Vaiman, Daniel Gris, Jean-Christophe Laissue, Paul Novel genes and mutations in patients affected by recurrent pregnancy loss.
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