Mutation analysis of the BOULE gene in men with non-obstructive azoospermia:: identification of a novel polymorphic variant in the black population

The BOULE gene is a member of the 'deleted in azoospermia'DAZ family. As in flies and worms, disruption of the BOULE homologues leads to meiotic defects during the first meiotic division, we screened the coding region of the BOULE gene from 40 infertile men with non-obstructive azoospermia or severe oligoasthenoteratozoospermia by denaturing high-pressure liquid chromatography and direct sequencing in order to make progress in elucidating the aetiology of male infertility. Two infertile patients were heterozygous for a novel G to C transversion in exon 2 resulting in a Q2E amino acid substitution. As these two infertile men were from African origin, screening of fertile African subjects identified this novel variant in two fertile male subjects suggesting that this novel Q2E substitution had non-pathologic role. Taking into account the size of our sample, we conclude that BOULE coding sequence mutations are not an important factor in the aetiology of azoospermia.