Analysis of Genes in Male Infertility.

Infertility and subfertility occur in about 15% of couples with a desire to have children. In 50% of these couples the cause of infertility can be attributed to the female and in 20% to the male. In 20% of the cases no explanation can be found. Several factors involved in male infertility have already been identified. It is also clear that in fraction of cases genetic factors are involved. One example of this is the role of the cystic fibrosis gene (CFTR gene) in congenital bilateral absence of the vas deferens. This project aims to study 2 genetic factors that are known to be involved, or at least are known to occur more frequently, in infertile males than in fertile males: microdeletions at Yq11 and chromosome translocations. In both cases the purpose of the project is to characterize better the factors involved, to study their normal function and to define better their role in male infertility.