Objective: Defect of some genes related to spermatogenesis may result in male infertility with azoospermia. This study aimed to clone some of the genes.
Methods: Testis tissues from a patient with idiopathic azoospermia and from a normal fathered man were investigated with an improved mRNA differential display approach.
Results: Significant difference was observed between the two tissues in gene expression. Five differential expressed sequence-tags (ESTs) were cloned and sequenced. Homology analysis with software advanced BLAST 2.0 showed that one EST shared 100% homology with cosmid L27h9, which located in Huntington's disease region on 4p16.3; the other 4 showed very low homology with sequences in GenBank.
Conclusion: Azoospermia has complex genetic heterogeneity. A gene located in Huntington's disease region on 4p16.3 is expressed in human testis during the spermatogenesis, and a loss of its function may associate with azoospermia.