Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia.

Objective: To investigate the possible association between ZNF230 gene and azoospermia.

Methods: Screening for mutation of all 6 exons of ZNF230 gene was performed by denaturing high performance liquid chromatography(DHPLC) in 99 patients with azoospermia and in 115 healthy men as controls.

Results: An A-->G transition at nucleotide 316 in exon 6 was identified. There were significant differences in the distribution profiles of both allele and genotype frequencies between patient group and control group (P < 0.01 and P < 0.05, respectively). In addition,there was a statistically significant difference in the serum follicle stimulating hormone (FSH) level between the patients with GG/GA genotype and those with AA genotype (P < 0.05).

Conclusion: ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level.