Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the possible association between ZNF230 gene and azoospermia.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level.</p>