OBJECTIVETo investigate the association of male infertility with single nucleotide polymorphisms of the autosomal DAZL gene.

METHODSSemen samples were collected from infertile men (infertility group, n=144) and healthy fathers (fertility group, n=53) in the northeast of China, and the former was further divided into 5 subgroups according to the WHO diagnostic criteria for oligoasthenoteratozoospermia (1999) i.e., oligoasthenoteratozoospermia, oligoasthenozoospermia, asthenoteratozoospermia, asthenozoospermia and non-oligoasthenoteratozoospermia. PCR-RFLP analysis was used to detect the polymorphism of SNP260. The SNP386 polymorphism of the DAZL gene was analysed with a PCR-SSCP based method. Sequencing and statistical analyses were performed.

RESULTSThe SNP260 polymorphism of the DAZL gene was found in both the infertility and the control groups, with no significant difference in between (P > 0.05). There was a larger percentage of SNP260AG in the subgroup of oligoasthenoteratozoospermia than in others, and the SNP386 polymorphism of the DAZL gene was not found in any of the subgroups.

CONCLUSIONThe SNP260 and SNP386 polymorphisms of the DAZL gene are not associated with male infertility in the northeast of China. Further research needs to be done to clarify the association between SNP260AG and oligoasthenoteratozoospermia. SNP386 polymorphism may be restricted in some small area in Taiwan only. Therefore neither of them can be used as a molecular marker for the genetic diagnosis of male infertility in the northeast of China.