Mapping of the POF1 locus and identification of putative genes for premature ovarian failure

We have identified a breakpoint on the X chromosome which is associated wit h premature ovarian failure (POF), Using polymerase chain reaction (PCR) pr obes of polymorphic microsatellites and fluorescent in-situ hybridization ( FISH), this breakpoint has been narrowed to a region of 300 kb spanned by t wo pi artificial chromosomes (PAC), Computer exon prediction and gene homol ogy programs revealed three genes in this area. Our results suggest that tw o of these genes, HS6ST and E2F and LINE 1 elements may be involved in ovar ian development, Interruption of these genes could be the cause of POF. Thi s study demonstrates how various molecular techniques and bioinformatic sea rches can complement each other in order to solve a clinical problem.