PRDM9基因多态性与汉族男性精子发生障碍相关性研究  

Relationship between PRDM9 Gene Polymorphism and Dyszoospermia in Chinese Han Population

作　　者：彭玉婉[1] 贺小进[1] 阮健[2,3] 杜卫东[2,3] 吴欢[1] 左先波[2] 陈刚[2] 曹云霞[1] 张学军[2] 

机构地区：[1]安徽医科大学第一附属医院生殖医学中心,合肥230022 [2]安徽医科大学省部共建教育部重要遗传病基因资源利用重点实验室,合肥230022 [3]安徽省基因研究重点实验室,合肥230022

出　　处：《生殖与避孕》2012年第6期377-381,共5页Reproduction and Contraception

基　　金：安徽高校省级自然科学基金项目,项目编号：KJ20112166

摘　　要：目的:探讨PRDM9基因多态性与精子发生障碍的关系。方法:应用Sequenom MassArray质谱阵列技术对377例已生育的汉族男性人群(对照组)和309例汉族男性精子发生障碍患者(包括199例非梗阻性无精子症和110例严重少弱精子症,病例组)PRDM9基因的2个标签单核苷酸多态性(single nucleotide polymorphism,SNP)位点(rs1874165,rs2973631)进行基因型检测。应用Plink 1.03软件对数据资料进行统计分析,比较对照组与病例组等位基因频率及基因型显性/隐性模式的差异。结果:PRDM9基因2个标签SNPs的等位基因频率在对照组与病例组间无统计学差异(P>0.05),进一步对2个位点的基因型显性模式和隐性模式分析也未显示统计学差异(P>0.05)。结论:PRDM9基因rs1874165,rs2973631多态性与汉族男性精子发生障碍可能无相关性。Objective： To investigate the relationship of PRDM9 gene polymorphism with the risk of dyszoospermia in Han population. Methods： A total of 309 cases with dyszoospermia were collected （case group）, including 199 severe oligozoospermia （SO） cases and 110 non-obstructive azoospermia （NOA） cases, and 377 cases with normal fertility were collected as the control. The genotypes of two single nucleotide polymorphisms （SNP） rs1874165 and rs2973631 were detected by sequenom Mass Array technique. Allele frequencies and genotype dominant/recessive pattern differences between control grouP and the case group were compared by using Plink 1.03 software. Results： Between case group and control group, there was no significant difference in the allele frequencies of the two SNPs （P〉0.05） and no statistically significant difference in the dorrnain/recessive pattern on the two sites （P〉0.05）. Conclusion： The PRDM9 gene rs 1874165 and rs2973631 SNP might not be correlated with dyszoospermia in Han population.

关 键 词：不育症 精子发生障碍 PRDM9基因 单核苷酸多态性(SNP) 

分 类 号：R698.2[医药卫生—泌尿科学]