ZNF230基因突变筛查及其与无精症的相关性分析(英文)  

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

作　　者：董景涛[1] 张思仲[1] 马用信[1] 杨开选[2] 黄明孔[3] 孙岩[1] 何国平[1] 李亚[1] 张炜[1] 彭艳[1] 

机构地区：[1]四川大学华西医院医学遗传实验室,成都610041 [2]华西第二医院 [3]四川生殖卫生学院附属医院

出　　处：《中华医学遗传学杂志》2005年第3期258-260,共3页Chinese Journal of Medical Genetics

基　　金：国家863课题(2002BA711A08)~~

摘　　要：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 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 diffenences 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 [QX(Y9]ZNF230 gene may be associated with azoospermia,and the A316G mutation may be correlated with the serum FSH level.

关 键 词：ZNF230 基因突变 无精症 卵泡刺激素 基因型 基因频率 

分 类 号：R698.2[医药卫生—泌尿科学]