Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure.

To determine whether mutations of the homeobox region of the human NOBOX gene are present in Japanese women with premature ovarian failure (POF), genomic DNA of blood samples from 30 women with POF and 20 normal controls were extracted for polymerase chain reaction (PCR) and analyzed by direct sequencing. No mutations in exons 2-6 of the NOBOX gene, including the homeobox region, could be identified in Japanese women with POF. Our data suggest that mutations of the homeobox region of the NOBOX gene are uncommon in Japanese patients with POF.