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Published on: June 14, 2012
Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia
Jing-tao Dong1, Si-zhong Zhang, Yong-xin Ma
1Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, PR China.
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.
