Couples with risk of inheritable diseases and those applying for assisted reproduction techniques (ART) may benefit from new diagnostic methodologies like preimplantation diagnosis (PID) or gamete analysis.
In these situations a study of the genetic content of the single gamete can provide valuable diagnostic information and contribute to our scientific knowledge in the field of reproductive biology. In our project we study chromosome abnormalities in spermatozoa. It may be obvious that a proper selection of healthy sperm cells (for example in case of X-linked diseases) prior to fertilization opens a way to the most early and ethically acceptable way of preventing genetic diseases. Also the validity of existing sperm pre-selection techniques will be monitored by examination of the sperm genome. Through gamete selection it will be possible to avoid the burden of prenatal diagnosis with the subsequent psychological and physiological problems for couples at risk. For this purpose a techinque was developed to screen the genomic content of a relatively large number of sperm cells without labour intensive and time consuming pretreatment steps. The non-radioactive in situ hybridisation (ISH) technique, combined with labeled DNA probes for individual chromosome or genes, allows the detection of genetic abnormalities in human interphase nuclei, and can thus be used for sexing, detection of genetic abnormalities like trisomies, aneuploidies and translocations in spermatozoa. A new and highly sensitive amplification method will be applied for the detection of locus specific DNA probes, disclosing a new dimension of sensitivity in these procedures.