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目的探讨ZNF230基因与无精症的关系。方法应用变性高效液相色谱(denaturinghighperformanceliquidchromatography,DHPLC)对99例无精症患者与115名健康对照者基因组DNA中ZNF230基因全部6个外显子进行突变筛查。结果检测到ZNF230基因第6外显子A316G碱基转换;无精症组与健康对照组之间等位基因频率和基因型频率均差异存在统计学意义(分别为P<0.01和P<0.05);无精症组内GG和GA基因型亚组血清卵泡刺激素水平明显高于AA基因型亚组(P<0.05)。结论ZNF230基因不但可能和无精症相关,而且可能与血清FSH水平有一定相关性。
Objective To investigate the relationship between ZNF230 gene and azoospermia. Methods All 6 exons of ZNF230 gene in genomic DNA of 99 patients with azoospermia and 115 healthy controls were screened by denaturing high performance liquid chromatography (DHPLC). Results There was a significant difference (P <0.01 and P <0.05, respectively) between Alzheimer’s disease group and healthy controls in allelic frequencies and genotype frequencies of ZNF230 gene exon 6 A316G. . The level of serum FSH in GG and GA genotypes in AA group was significantly higher than that in AA genotype group (P <0.05). Conclusion ZNF230 gene may not only be related to azoospermia, but also have some correlation with serum FSH level.