• PMID: 15952109
• Gene Name: ZNF230
• Condition: Azoospermia
• Association: Associated
• Mutation: ZNF230 (A316G)
• Population size: 214
• Population details: 214 (99 patients with azoospermia, 115 healthy men as controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: ZNF230
• Other associated phenotypes: Azoospermia

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

Dong JT, Zhang SZ, Ma YX, Yang KX, Huang MK, Sun Y, He GP, Li Y, Zhang W, Peng Y.

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. FAU - Dong, Jing-tao AU - Dong JT AD - Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, PR China. FAU - Zhang, Si-zhong AU - Zhang SZ FAU - Ma, Yong-xin AU - Ma YX FAU - Yang, Kai-xuan AU - Yang KX FAU - Huang, Ming-kong AU - Huang MK FAU - Sun, Yan AU - Sun Y FAU - He, Guo-ping AU - He GP FAU - Li, Ya AU - Li Y FAU - Zhang, Wei AU - Zhang W