Özet:
The autosomal recessive genetic disorders Seckel syndrome and azoospermia were studied. In Seckel syndrome, the two known loci were tested for linkage in 15 Seckel families. In addition, four ATR interacting and fifteen DNA repair gene loci were tested for linkage. In azoospermia, the locus which was previously identified in our laboratory was refined with additional markers, and computer based parametric tests were applied to evaluate the linkage information obtained. The strongest candidate genes were selected using databases. MNAT1 and RAD51L1 were assessed as the strongest candidates for Seckel syndrome and P2RX1 and NYD-SP20 for azoospermia. Those genes were analyzed for mutations in relevant families by direct sequencing and/or SSCP in order to identify any disease causing defects. No mutations were found in any of the genes, but a novel polymorphism was identified in MNAT1.
