The Azoospermia Phenotype

The complete absence of sperm cells from semen may seem like a simple phenotype, unambiguously ascertained by an examination of semen, but sperm count can be affected by many factors (such as time since the last ejaculation, substance abuse, frequency of hot baths, and even dental caries) and can, thus, vary considerably in a single individual (2). A discussion of this variation lies outside the scope of the present chapter here we note that sperm count can be regarded as a continuous trait...

From Europe

I started my PhD in October 1988 at the University of Antwerp, Belgium in the laboratory of Christine Van Broeckhoven, currently the scientific director of the Molecular Genetics Department affiliated to the Flanders Interuniversity Institute for Biotechnology. I became interested in her molecular genetic research of neurological disorders, after reading a paper in Nature on Alzheimer's disease (21). I selected this paper as a topic for a course in the frame of my master studies in...

References

Genomic disorders structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998 14 417-422. 2. Chance PF, Abbas N, Lensch MW, et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication deletion of a region on chromosome 17. Hum Mol Genet 1994 3 223-228. 3. Ellis D, Malcolm S. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 1994 6 333-334. 4. Inoue K, Osaka H, Imaizumi K, et al....